Multidirectional approach for human rare diseases using massive parallel sequencing

• Project/Area Number: 16H05357
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Yokohama City University
• Principal Investigator: 三宅 紀子 横浜市立大学, 医学部, 准教授 (40523494)
• Project Period (FY): 2016-04-01 – 2019-03-31
• Project Status: Completed (Fiscal Year 2018)
• Budget Amount: ¥17,420,000 (Direct Cost: ¥13,400,000、Indirect Cost: ¥4,020,000); Fiscal Year 2018: ¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000); Fiscal Year 2017: ¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000); Fiscal Year 2016: ¥7,540,000 (Direct Cost: ¥5,800,000、Indirect Cost: ¥1,740,000)
• Keywords: 次世代シークエンサー / 全エクソーム解析 / 全ゲノムシークエンス / 新規疾患遺伝子 / ロングリードシークエンス / 分子遺伝学 / 人類遺伝学 / ゲノム医科学 / 小児科学 / 全エクソームシークンス / 機能解析

Outline of Annual Research Achievements

Aicardi症候群に関しては、現在までに55症例を集積した。全症例に対して全エクソーム解析を終了し、うち2症例に関しては、別の中枢神経疾患であることを分子遺伝学的に説明し、以降の解析対象から除外した。典型的な22症例に関して、全ゲノム解析を行い、SNV解析が完了しているが、疾患遺伝子同定には至っていない。
現在までに、Galloway-Mowat 症候群は現在までに29家系を集積した。本年度は、そのうちの一家系において新規疾患遺伝子NUP133を同定し、機能解析により病的変異であることを明らかにした (Fujita A et al., Annals of Neurology, 2018)。2015年に発表したステロイド抵抗性ネフローゼ症候群の疾患遺伝子であるNUP107遺伝子に引き続き、核膜孔複合体構成タンパク質の両アレル性バリアントによるヒト疾患の新規疾患遺伝子を世界に先駆けて同定した。
関節弛緩型エーラス・ダンロス症候群においては、発端者を対象に全エクソームを施行したが、病因と考えられるバリアントの同定にはいたらなかった。
また、習慣性流産の原因と考えられる、 NOP104の変異を同定し、発表した(Suzuki et al., J Hum Genet. 2018 Apr;63(4):425-430)。
その他、他施設との多国間共同研究により、新規疾患遺伝子としてKAT6A (Genet Med. 2019 Apr;21(4):850-860.), FBOX11 (Am J Hum Genet. 2018 Aug 2;103(2):305-316), PMPBC (Am J Hum Genet. 2018 Apr 5;102(4):557-573)などを同定し、論文発表を行った。

Research Progress Status

平成30年度が最終年度であるため、記入しない。

Strategy for Future Research Activity

平成30年度が最終年度であるため、記入しない。

Research Products

• [Int'l Joint Research] University Hospital Centre Zagreb/University of Zagreb/University Hospital Center Osijek(クロアチア)
• [Int'l Joint Research] Friedrich-Alexander-Universitat(ドイツ)
• [Int'l Joint Research] University Hospitals Bristol(英国)
• [Int'l Joint Research] Hospital de Puerto Montt/Instituto de Rehabilitacion Teleton(チリ)
• [Int'l Joint Research] Medical Genetics Center of Genome/Isfahan University of Medical Sciences(イラン)
• [Int'l Joint Research] Universitaire de Nantes(フランス)
• [Int'l Joint Research] University of Freiburg/University Hospital Schleswig Holstein(ドイツ)
• [Int'l Joint Research] The Children's Hospital of Philadelphia/University of Colorado/Christian-Albrechts-University of Kiel(アメリカ)
• [Int'l Joint Research] University of Melbourne/Royal Melbourne Hospital(オーストラリア)
• [Int'l Joint Research] University Hospital Centre Zagreb/University Hospital Center Osijek/Osijek University(クロアチア)
• [Int'l Joint Research]
• [Int'l Joint Research] Tel Aviv Sourasky Medical Center/Schneider Children's Medical Center/Raphael Recanati Genetic Institute(Israel)
• [Int'l Joint Research] Hospital Kuala Lumpur(Malaysia)
• [Int'l Joint Research] CHU Besançon/CHU de Nantes/INSERM(France)
• [Int'l Joint Research] National Research Centre(Egypt)
• [Int'l Joint Research] Clinical Hospital Center Split/Clinical Hospital Center Zagreb(Croatia)
• [Int'l Joint Research]
• [Journal Article] Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome. (2018)
  • Author(s): Fujita Atsushi、Tsukaguchi Hiroyasu、Koshimizu Eriko、Nakazato Hitoshi、Itoh Kyoko、Kuraoka Shohei、Komohara Yoshihiro、Shiina Masaaki、Nakamura Shohei、Kitajima Mika、Tsurusaki Yoshinori、Miyatake Satoko、Ogata Kazuhiro、Iijima Kazumoto、Matsumoto Naomichi、Miyake Noriko
  • Journal Title: Ann Neurol Volume: 84 Pages: 814-828
  • DOI: 10.1002/ana.25370
  • Peer Reviewed
• [Journal Article] KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants (2018)
  • Author(s): Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N and others
  • Journal Title: Genetics in Medicine Volume: 21 Pages: 850-860
  • DOI: 10.1038/s41436-018-0259-2
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Phenotypic and molecular insights into PQBP1-related intellectual disability (2018)
  • Author(s): Abdel-Salam GMH*, Miyake N, Abdel-Hamid MS, Sayed ISM, Gadelhak MI, Ismail SI, Aglan MS, Afifi HH, Temtamy SA, Matsumoto N.
  • Journal Title: American Journal of Medical Genetics Part A Volume: 176(11) Pages: 2446-2450
  • DOI: 10.1002/ajmg.a.40479
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder (2018)
  • Author(s): Gregor A, Sadleir LG, Asadollahi R, others and Miyake N et al.
  • Journal Title: The American Journal of Human Genetics Volume: 103 Pages: 305-316
  • DOI: 10.1016/j.ajhg.2018.07.003
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report. (2018)
  • Author(s): Hyun Hye Sun、Kim Seong Heon、Park Eujin、Cho Myung Hyun、Kang Hee Gyung、Lee Hyun Soon、Miyake Noriko、Matsumoto Naomichi、Tsukaguchi Hiroyasu、Cheong Hae Il
  • Journal Title: BMC Med Genet. Volume: 19 Pages: 131-131
  • DOI: 10.1186/s12881-018-0649-y
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A novel 8-bp duplication in ADAT3 causes mild intellectual disability (2018)
  • Author(s): Salehi Chaleshtori AR, Miyake N, Ahmadvand M, Bashti O, Matsumoto N, Noruzinia M# (#: corresponding).
  • Journal Title: Human Genome Variation Volume: 21 Pages: 5-7
  • DOI: 10.1038/s41439-018-0007-9
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood (2018)
  • Author(s): Vögtle FN*,#, Brändl B#, Larson A#, Pendziwiat M#, Friederich MW# (# de notes equal contribution), White SM, Basinger A, Kücükköse C, Muhle H, Jähn JA, Keminer O, Helbig KL, Delto CF, Myketin L, Mossmann D, Burger N, Miyake N, Burnett A, van Baalen A, Lovell MA, Matsumoto N, et al..
  • Journal Title: The American Journal of Human Genetics Volume: 102(4) Pages: 557-573
  • DOI: 10.1016/j.ajhg.2018.02.014
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Dysosteosclerosis is also caused by TNFRSF11A mutation (2018)
  • Author(s): Guo L, Elcioglu NH, Karalar OK, Topkar MO, Wang Z, Sakamoto Y, Matsumoto N, Miyake N, Nishimura G, Ikegawa S#.
  • Journal Title: Journal of Human Genetics Volume: 63(6) Pages: 769-774
  • DOI: 10.1038/s10038-018-0447-6
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum (2018)
  • Author(s): Sakaguchi T, Zigman T, Petkovic; Ramadza D, Omerza L, Puseljic; S, Eres Hrvacanin Z, Miyake N, Matsumoto N, Bariic I.
  • Journal Title: Human Genome Variation Volume: 8;5 Pages: 18005-18005
  • DOI: 10.1038/hgv.2018.5
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] The second point mutation in PREPL: a case report and literature review (2018)
  • Author(s): Silva S, Miyake N, Tapia C, Matsumoto N.
  • Journal Title: Journal of Human Genetics Volume: 63(5) Pages: 677-681
  • DOI: 10.1038/s10038-018-0426-y
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A homozygous NOP14 variant is likely to cause recurrent pregnancy loss. (2018)
  • Author(s): Suzuki Toshifumi、Behnam Mahdiyeh、Ronasian Firooze、Salehi Mansoor、Shiina Masaaki、Koshimizu Eriko、Fujita Atsushi、Sekiguchi Futoshi、Miyatake Satoko、Mizuguchi Takeshi、Nakashima Mitsuko、Ogata Kazuhiro、Takeda Satoru、Matsumoto Naomichi、Miyake Noriko
  • Journal Title: J Hum Genet. Volume: 63 Pages: 425-430
  • DOI: 10.1038/s10038-018-0410-6
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features (2018)
  • Author(s): Sekiguchi F, Nasiri J, Sedghi M, Salehi M, Hosseinzadeh M, Okamoto N, Mizuguchi T, Nakashima M, Miyatake S, Takata A, Miyake N#, Matsumoto N# (#: co-correspondence).
  • Journal Title: Journal of Human Genetics Volume: 63(4) Pages: 487-491
  • DOI: 10.1038/s10038-017-0404-9
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities (2018)
  • Author(s): Nakajima J, Oana S, Sakaguchi T, Nakashima M, Numabe H, Kawashima H, Matsumoto N, Miyake N#.
  • Journal Title: Journal of Human Genetics Volume: 63(4) Pages: 529-532
  • DOI: 10.1038/s10038-017-0399-2
  • Peer Reviewed
• [Journal Article] De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders. (2018)
  • Author(s): Akita Tenpei、Aoto Kazushi、Kato Mitsuhiro、Shiina Masaaki、Mutoh Hiroki、Nakashima Mitsuko、Kuki Ichiro、Okazaki Shin、Magara Shinichi、Shiihara Takashi、Yokochi Kenji、Aiba Kaori、Tohyama Jun、Ohba Chihiro、Miyatake Satoko、Miyake Noriko、Ogata Kazuhiro、Fukuda Atsuo、Matsumoto Naomichi、Saitsu Hirotomo
  • Journal Title: Annals of Clinical and Translational Neurology Volume: 5 Pages: 280-296
  • DOI: 10.1002/acn3.528
  • Peer Reviewed / Open Access
• [Journal Article] De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy. (2018)
  • Author(s): Nakashima Mitsuko、Kato Mitsuhiro、Aoto Kazushi、Shiina Masaaki、Belal Hazrat、Mukaida Souichi、Kumada Satoko、Sato Atsushi、Zerem Ayelet、Lerman-Sagie Tally、Lev Dorit、Leong Huey Yin、Tsurusaki Yoshinori、Mizuguchi Takeshi、Miyatake Satoko、Miyake Noriko、Ogata Kazuhiro、Saitsu Hirotomo、Matsumoto Naomichi
  • Journal Title: Ann Neurol. Volume: 83 Pages: 794-806
  • DOI: 10.1002/ana.25208
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia. (2018)
  • Author(s): Fukuda Hiroyuki、Imagawa Eri、Hamanaka Kohei、Fujita Atsushi、Mitsuhashi Satomi、Miyatake Satoko、Mizuguchi Takeshi、Takata Atsushi、Miyake Noriko、Kramer Uri、Matsumoto Naomichi、Fattal-Valevski Aviva
  • Journal Title: J Hum Genet. Volume: 63 Pages: 673-676
  • DOI: 10.1038/s10038-018-0421-3
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia (2018)
  • Author(s): Cho K#,*, Yamada M# (# denotes equal contribution) (*: correspondence), Agematsu K, Kanegane H, Miyake N, Ueki M, Akimoto T, Kobayashi N, Ikemoto S, Tanino M, Fujita A, Hayasaka I, Miyamoto S, Tanaka-Kubota M, Nakata K, Shiina M, Ogata K, Minakami H, Matsumoto N, Ariga T.
  • Journal Title: Am J Hum Genet. Volume: 1;102(3) Pages: 480-486
  • DOI: 10.1016/j.ajhg.2018.01.019
  • NAID: 120006502505
  • Peer Reviewed / Open Access
• [Journal Article] Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. (2018)
  • Author(s): Mizuguchi Takeshi、Kurahashi Hirokazu、et al.
  • Journal Title: Hum Mol Genet. Volume: 27 Pages: 1421-1433
  • DOI: 10.1093/hmg/ddy052
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutation (2018)
  • Author(s): Doi H、Koyano S、Miyatake S、Nakajima S、Nakazawa Y、Kunii M、Tomita-Katsumoto A、Oda K、Yamaguchi Y、Fukai R、Ikeda S、Kato R、Ogata K、Kubota S、Hayashi N、Takahashi K、Tada M、Tanaka K、Nakashima M、Tsurusaki Y et al.
  • Journal Title: J Hum Genet. Volume: 63 Pages: 417-423
  • DOI: 10.1038/s10038-017-0408-5
  • Peer Reviewed / Open Access
• [Journal Article] Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities (2018)
  • Author(s): Enya T*, Okamoto N, Iba Y, Miyazawa T, Okada M, Ida S, Naruto T, Imoto I, Fujita A, Miyake N, Matsumoto N, Sugimoto K, Takemura T.
  • Journal Title: American Journal of Medical Genetics Part A Volume: 176(3) Pages: 707-711
  • DOI: 10.1002/ajmg.a.38606
  • Peer Reviewed
• [Journal Article] Integrative analysis of de novo mutations in autism spectrum disorders provided deeper insight into disease genes, its biology and drug discovery (2018)
  • Author(s): Takata A, Miyake N, Tsurusaki Y, Fukai R, Miyatake S, Koshimizu E, Kushima I, Okada T, ...Matsumoto N.
  • Journal Title: Cell Rep Volume: 22(3) Pages: 734-747
  • DOI: 10.1016/j.celrep.2017.12.074
  • Peer Reviewed / Open Access
• [Journal Article] Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy (2018)
  • Author(s): Iwama K, Takaori T, Fukushima A, Tohyama J, Ishiyama A, Ohba C, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ito S, Saitsu H, Mizuguchi T, Matsumoto N*.
  • Journal Title: Journal of Human Genetics Volume: 63(3) Pages: 263-270
  • DOI: 10.1038/s10038-017-0405-8
  • Peer Reviewed
• [Journal Article] A novel mutation in SLC1A3 causes episodic ataxia. (2018)
  • Author(s): Iwama Kazuhiro、Iwata Aya、Shiina Masaaki、Mitsuhashi Satomi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Ogata Kazuhiro、Ito Shuichi、Mizuguchi Takeshi、Matsumoto Naomichi
  • Journal Title: J Hum Genet. Volume: 63 Pages: 207-211
  • DOI: 10.1038/s10038-017-0365-z
  • Peer Reviewed
• [Journal Article] A familial case of PDE10A-associated childhood-onset chorea with bilateral striatal lesions. (2018)
  • Author(s): Miyatake Satoko、Koshimizu Eriko、Shirai Ikuko、Kumada Satoko、Nakata Yasuhiro、Kamemaru Aiko、Nakashima Mitsuko、Mizuguchi Takeshi、Miyake Noriko、Saitsu Hirotomo、Matsumoto Naomichi
  • Journal Title: Mov Disord Volume: 33 Pages: 177-179
  • DOI: 10.1002/mds.27219
  • Peer Reviewed
• [Journal Article] A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation. (2018)
  • Author(s): Miyake N, Ozasa S, Mabe H, Kimura S, Shiina M, Imagawa E, Miyatake S, Nakashima M, Mizuguchi T, Takata A, Ogata K, Matsumoto N
  • Journal Title: Clin Genet. Volume: 93 Pages: 929-930
  • DOI: 10.1111/cge.13105
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation (2018)
  • Author(s): Matsumoto Ayumi、Imagawa Eri、Miyake Noriko、Ikeda Takahiro、Kobayashi Mizuki、Goto Masahide、Matsumoto Naomichi、Yamagata Takanori、Osaka Hitoshi
  • Journal Title: Brain and Development Volume: 40 Pages: 325-329
  • DOI: 10.1016/j.braindev.2017.09.002
  • Peer Reviewed
• [Journal Article] Detection of copy number variations in epilepsy using exome data (2018)
  • Author(s): Tsuchida N, Nakashima M, Kato M, Heyman E, Inui T, Haginoya K, Watanabe S, Chiyonobu T, Morimoto M, Ohta M, Kumakura A, Kubota M, Kumagai Y, Hamano SI, Mizuguchi T. et al.
  • Journal Title: Clinical Genetics Volume: 93 Pages: 577-587
  • DOI: 10.1111/cge.13144
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Coffin-Siris syndrome and cardiac anomaly with a novel SOX 11 mutation (2018)
  • Author(s): Okamoto Nobuhiko、Ehara Eiji、Tsurusaki Yoshinori、Miyake Noriko、Matsumoto Naomichi
  • Journal Title: Congenit Anom Volume: 58 Issue: 3 Pages: 105-107
  • DOI: 10.1111/cga.12242
  • Peer Reviewed
• [Journal Article] Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy (2018)
  • Author(s): Tsuchida N, Nakashima M, Miyauchi A, Yoshitomi S, Kimizu T, Ganesan V, Teik KW, Ch'ng GS, Kato M, Mizuguchi T, Takata A, Miyatake S, Miyake N, Osaka H, Yamagata T, Nakajima H, Saitsu H, Matsumoto N
  • Journal Title: Clinical Genetics Volume: 93 Pages: 266-274
  • DOI: 10.1111/cge.13061
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia. (2018)
  • Author(s): *Long Guo, *Nursel H Elcioglu, *Shuji Mizumoto, Zheng Wang, Bilge Noyan, Hatice M Albayrak, Shuhei Yamada, Naomichi Matsumoto, Noriko Miyake, Gen Nishimura, Shiro Ikegawa (equal contribution)
  • Journal Title: J. Hum. Genet. Volume: － Pages: 797-801
  • DOI: 10.1038/jhg.2017.38
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation. (2017)
  • Author(s): Shimojima K, Higashiguchi T, Kishimoto K, Miyatake S, Miyake N, Takanashi J, Matsumoto N, Yamamoto T
  • Journal Title: Hum Genome Var Volume: 4 Pages: 17051-17051
  • DOI: 10.1038/hgv.2017.51
  • Peer Reviewed / Open Access
• [Journal Article] Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies (2017)
  • Author(s): Hammarsjo A.、Wang Z.、（以下24名）
  • Journal Title: Scientific Reports Volume: 7 Pages: 15585-15585
  • DOI: 10.1038/s41598-017-15442-1
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Response to Lefebvre et al (2017)
  • Author(s): Takeda K, Kou I, Kawakami N, Yasuhiko Y, Ogura Y, Imagawa E, Miyake N, Matsumoto N, Sudo H, Kotani T, Japan Early Onset Scoliosis Research Group, Nakamura M, Matsumoto M, Watanabe K, Ikegawa S.
  • Journal Title: Clinical Genetics Volume: 92 Pages: 563-564
  • DOI: 10.1111/cge.13011
  • Peer Reviewed / Open Access
• [Journal Article] Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall?Stickler syndrome spectrum (2017)
  • Author(s): Guo L, Elcioglu NH, Wang Z, Demirkol YK, Isguven P, Matsumoto N, Nishimura G, Miyake N, Ikegawa S*.
  • Journal Title: Human Genome Variation Volume: 5;4 Pages: 17040-17040
  • DOI: 10.1038/hgv.2017.40
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Succinate dehydrogenase B-deficient renal cell carcinoma: A case report with novel germline mutation. (2017)
  • Author(s): Iwashita Hiromichi、Okudela Koji、Matsumura Mai、Yamanaka Shoji、Sawazumi Tomoe、Enaka Makiko、Udaka Naoko、Miyake Akio、Hibiya Takashi、Miyake Noriko、Matsumoto Naomichi、Makiyama Kazuhide、Yao Masahiro、Nagashima Yoji、Ohashi Kenichi
  • Journal Title: Pathology International Volume: 67 Pages: 585-589
  • DOI: 10.1111/pin.12587
  • Peer Reviewed / Open Access
• [Journal Article] Successful bone marrow transplantation in two sisters with activated phosphoinositide 3-kinase δ syndrome 2 (2017)
  • Author(s): Sugiyama M、Iguchi A、Yamada M、Terashita Y、Ohshima J、Cho Y、Miyake N、Matsumoto N、Ueki M、Yamazaki Y、Takezaki S、Kobayashi I、Ariga T
  • Journal Title: Bone Marrow Transplantation Volume: 52 Pages: 1678-1680
  • DOI: 10.1038/bmt.2017.189
  • Peer Reviewed
• [Journal Article] X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1 (2017)
  • Author(s): *Miyake N, *Wolf N# (# correspondence), *Cayami F (*: equal contribution), et al., Matsumoto N, et al..
  • Journal Title: neurogenetics Volume: 18(4) Pages: 185-194
  • DOI: 10.1007/s10048-017-0520-x
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK (2017)
  • Author(s): Miyake N, Inaba M, Mizuno S, Shiina M, Imagawa E, Miyatake S, Nakashima M, Mizuguchi T, Takata A, Ogata K, Matsumoto N
  • Journal Title: Clinical Genetics Volume: 92 Pages: 554-555
  • DOI: 10.1111/cge.13023
  • Peer Reviewed
• [Journal Article] Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders (2017)
  • Author(s): Sollis E, Deriziotis P, Saitsu H, Miyake N, Matsumoto N, Hoffer MJV, Ruivenkamp CAL, Alders M, Okamoto N, Bijlsma EK, Plomp AS, Fisher SE.
  • Journal Title: Human Mutation Volume: 38(11) Pages: 1542-1554
  • DOI: 10.1002/humu.23303
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Delayed myelination is a unique clinical marker for CYP2U1-related spastic paraplegia. (2017)
  • Author(s): Minase G, Miyatake S, Nabatame S, Arai H, Koshimizu E, Mizuguchi T, Nakashima M, Miyake N, Saitsu H, Miyamoto T, Sengoku K, Matsumoto N.
  • Journal Title: J Hum Genet Volume: 62 Pages: 997-1000
  • DOI: 10.1038/jhg.2017.77
  • Peer Reviewed
• [Journal Article] Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations. (2017)
  • Author(s): Kino Jiro、Tsukaguchi Hiroyasu、Kimata Takahisa、Nguyen Huan Thanh、Nakano Yorika、Miyake Noriko、Matsumoto Naomichi、Kaneko Kazunari
  • Journal Title: BMC Nephrol Volume: 18 Pages: 220-220
  • DOI: 10.1186/s12882-017-0632-4
  • Peer Reviewed / Open Access
• [Journal Article] Characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations (2017)
  • Author(s): Kurahashi Naoko、Miyake Noriko、Mizuno Seiji、Koshimizu Eriko、Kurahashi Hirokazu、Yamada Keitaro、Natsume Jun、Aoki Yusuke、Nakamura Miho、Taniai Hiroko、Maki Yuki、Abe-Hatano Chihiro、Matsumoto Naomichi、Maruyama Koichi
  • Journal Title: Brain and Development Volume: 39 Pages: 672-677
  • DOI: 10.1016/j.braindev.2017.03.025
  • Peer Reviewed
• [Journal Article] ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin?Siris-like syndrome (2017)
  • Author(s): Miyatake S, Okamoto N, Stark Z, Nabetani M, Tsurusaki Y, Nakashima M, Miyake N, Mizuguchi T, Ohtake A, Saitsu H, Matsumoto N.
  • Journal Title: J Hum Genet Volume: 印刷中 Pages: 741-746
  • DOI: 10.1038/jhg.2017.24
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome. (2017)
  • Author(s): Eri Imagawa, Ken Higashimoto, Yasunari Sakai, Chikahiko Numakura, Nobuhiko Okamoto, Satoko Matsunaga, Akihide Ryo, Yoshinori Sato, Masafumi Sanefuji, Kenji Ihara, Yui Takada, Gen Nishimura, Hirotomo Saitsu, Takeshi Mizuguchi, Satoko Miyatake, Mitsuko Nakashima, Noriko Miyake, Hidenobu Soejima, Naomichi Matsumoto
  • Journal Title: Hum Mut Volume: 印刷中 Pages: 637-648
  • DOI: 10.1002/humu.23200
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts (2017)
  • Author(s): Iwama K, Mizuguchi T, Takanashi JI, Shibayama H, Shichiji M, Ito S, Oguni H, Yamamoto T, Sekine A, Nagamine S, Ikeda Y, Nishida H, Kumada S, Yoshida T, Awaya T, Tanaka R, Chikuchi R, Niwa H, Oka YI, Miyatake S, Nakashima M, Takata A, Miyake N, Ito S, Saitsu H, Matsumoto N.
  • Journal Title: Clin Genet Volume: - Pages: 180-187
  • DOI: 10.1111/cge.12991
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations (2017)
  • Author(s): Wang Zheng、Horemuzova Eva、Iida Aritoshi、Guo Long、Liu Ying、Matsumoto Naomichi、Nishimura Gen、Nordgren Ann、Miyake Noriko、Tham Emma、Grigelioniene Giedre、Ikegawa Shiro
  • Journal Title: Journal of Human Genetics Volume: 62 Pages: 503-506
  • DOI: 10.1038/jhg.2016.157
  • NAID: 40021158326
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder. (2017)
  • Author(s): Mizuguchi T, Nakashima M, Kato M, Yamada K, Okanishi T, Ekhilevitch N, Mandel H, Eran A, Toyono M, Sawaishi Y, Motoi H, Shiina M, Ogata K, Miyatake S, Miyake N, Saitsu H, Matsumoto N
  • Journal Title: J Hum Genet. Volume: 62 Pages: 525-529
  • DOI: 10.1038/jhg.2016.163
  • NAID: 40021210259
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis (2017)
  • Author(s): Takeda K, Kou I, Kawakami N, Iida A, Nakajima M, Ogura Y, Imagawa E, Miyake N, Matsumoto N, Yasuhiko Y, Sudo H, Kotani T, Japan Early Onset Scoliosis Research Group, Nakamura M, Matsumoto M, Watanabe K, Ikegawa S
  • Journal Title: Human Mutation Volume: 38 Pages: 317-323
  • DOI: 10.1002/humu.23168
  • Peer Reviewed / Open Access
• [Journal Article] Novel KCNB1 mutation associated with non-syndromic intellectual disability (2017)
  • Author(s): Latypova X, Matsumoto N, Vinceslas-Muller C, Bezieau S, Isidor B, Miyake N.
  • Journal Title: Journal of Human Genetics Volume: 62 Pages: 569-573
  • DOI: 10.1038/jhg.2016.154
  • NAID: 40021210392
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A case of severe movement disorder with GNAO1 mutation responsive to topiramate (2017)
  • Author(s): Sakamoto Saori、Monden Yukifumi、Fukai Ryoko、Miyake Noriko、Saito Hiroshi、Miyauchi Akihiko、Matsumoto Ayumi、Nagashima Masako、Osaka Hitoshi、Matsumoto Naomichi、Yamagata Takanori
  • Journal Title: Brain and Development Volume: 39 Pages: 439-443
  • DOI: 10.1016/j.braindev.2016.11.009
• [Journal Article] Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy (2017)
  • Author(s): Miyake N, Fukai R, Ohba C, ... Shiina M, Ogata K, Okuno-Yuguchi J, Fueki N, Ogiso Y, Suzumura H, Watabe Y, Imataka G, Leong HY, Fattal-Valevski A, Kramer U, Miyatake S, Kato M, Okamoto N, Sato Y, Mitsuhashi S, Nishino I, Kaneko N, Nishiyama A, Tamura T, Mizuguchi T, Nakashima M, Tanaka F, Saitsu H, Matsumoto N
  • Journal Title: Am J Hum Genet. Volume: 99 Pages: 950-961
  • DOI: 10.1016/j.ajhg.2016.08.005
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Biallelic Mutations in MYPN , Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy (2017)
  • Author(s): Miyatake S, Mitsuhashi S, Hayashi YK, Purevjav E, Nishikawa A, Koshimizu E, Suzuki M, Yatabe K, Tanaka Y, Ogata K, Kuru S, Shiina M, Tsurusaki Y, Nakashima M, Mizuguchi T, Miyake N, Saitsu H, Ogata K, Kawai M, Towbin J, Nonaka I, Nishino I, Matsumoto N
  • Journal Title: The American Journal of Human Genetics Volume: 100 Pages: 169-178
  • DOI: 10.1016/j.ajhg.2016.11.017
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Molecular genetic analysis of 30 families with Joubert syndrome. (2016)
  • Author(s): Suzuki T, et al., Matsumoto N
  • Journal Title: Clinical genetics Volume: 90 Pages: 526-535
  • DOI: 10.1111/cge.12836
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome. (2016)
  • Author(s): Miyake N, Abdel-Salam G, Yamagata T, Eid MM, Osaka H, Okamoto N, Mohamed AM, Ikeda T, Afifi HH, Piard J, van Maldergem L, Mizuguchi T, Miyatake S, Tsurusaki Y, Matsumoto N
  • Journal Title: Am J Med Genet A. Volume: 170 Pages: 2662-2670
  • DOI: 10.1002/ajmg.a.37778
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux. (2016)
  • Author(s): Fujita A, Isidor B, Piloquet H, Corre P, Okamoto N, Nakashima M, Tsurusaki Y, Saitsu H, Miyake N, Matsumoto N
  • Journal Title: J Hum Genet. Volume: 61 Pages: 835-838
  • DOI: 10.1038/jhg.2016.54
  • NAID: 40020938225
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Ultratra-sensitve droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome. (2016)
  • Author(s): Uchiyama Y, Nakashima M, Watanabe S, Miyajima M, Taguri M, Miyatake S, Miyake N, Saitsu H, Mishima H, Kinoshita A, Arai H, Yoshiura K, Matsumoto N.
  • Journal Title: Sci Rep Volume: 6 Pages: 22985-22985
  • DOI: 10.1038/srep22985
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation. (2016)
  • Author(s): Culic V, Miyake N, Jankovic; S, Petrovic D, Simunovic M et al.
  • Journal Title: Hum Genome Var. Volume: 13 Pages: 16035-16035
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases. (2016)
  • Author(s): Zarate YA, Bhoj E, Kaylor J, Li D, Tsurusaki Y, Miyake N, Matsumoto N, Phadke S, Escobar L, Irani A, Hakonarson H, Schrier Vergano SA
  • Journal Title: Am J Med Genet A. Volume: 170 Pages: 1967-1973
  • DOI: 10.1002/ajmg.a.37722
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures (2016)
  • Author(s): Fukai R, Saitsu H, Tsurusaki Y, Sakai Y, Haginoya K, Takahashi K, Hubshman MW, Okamoto N, Nakashima M, Tanaka F, Miyake N, Matsumoto N
  • Journal Title: J Hum Genet. Volume: 61 Pages: 381-387
  • DOI: 10.1038/jhg.2016.1
  • NAID: 40020825171
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia. (2016)
  • Author(s): Fukai R, Saitsu H, Okamoto N, Sakai Y, Fattal-Valevski A, Masaaki S, Kitai Y, Torio M, Kojima-Ishii K, Ihara K, Nakashima M, Miyatake S, Tanaka F, Miyake N, Matsumoto N
  • Journal Title: J Hum Genet. Volume: 61 Pages: 451-455
  • DOI: 10.1038/jhg.2015.163
  • NAID: 40020825300
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Panventriculomegaly with a wide foramen of Magendi and a large cisterna magna. (2016)
  • Author(s): Hiroshi Kageyama, Masakazu Miyajima, Ikuko Ogino, Madoka Nakajima, Kazuaki Shimoji, Ryoko Fukai, Noriko Miyake, Kenichi Nishiyama, Naomichi Matsumoto, Hajime Arai
  • Journal Title: J Neurosurg Volume: E-pub Pages: 1858-1866
  • DOI: 10.3171/2015.6.jns15162
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations. (2016)
  • Author(s): Iwama K, Sasaki M, Hirabayashi S, Ohba C, Iwabuchi E, Miyatake S, Nakashima M, Miyake N, Ito S, Saitsu H, Matsumoto N
  • Journal Title: J Hum Genet. Volume: 61 Pages: 527-31
  • DOI: 10.1038/jhg.2016.9
  • NAID: 40020857031
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] De novo GABRA1 mutations in Ohtahara and West syndromes. (2016)
  • Author(s): ○Hirofumi Kodera, et al, Hirotomo Saitsu and Naomichi Matsumoto
  • Journal Title: Epilepsia. Volume: 57 Pages: 566-573
  • DOI: 10.1111/epi.13344
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy. (2016)
  • Author(s): Assoum M, Philippe C, et al., Matsumoto N, et al.
  • Journal Title: Am J Hum Genet. Volume: 99 Pages: 1368-1376
  • DOI: 10.1016/j.ajhg.2016.10.009
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay (2016)
  • Author(s): Saitsu H, Watanabe M, Akita T, Ohba C, Sugai K, Ong WP, Shiraishi H, Yuasa S, Matsumoto H, Beng KT, Saitoh S, Miyatake S, Nakashima M, Miyake N, Kato M, Fukuda A. and Matsumoto N.
  • Journal Title: Sci Rep. Volume: 6 Pages: 30072-30072
  • DOI: 10.1038/srep30072
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma (2016)
  • Author(s): Saitsu H, Sonoda M, Higashijima T, Shirozu H, Masuda H, Tohyama J, Kato M, Nakashima M, Tsurusaki Y, Mizuguchi T, Miyatake S, Miyake N, Kameyama S, Matsumoto N.
  • Journal Title: Ann Clin Transl Neurol. Volume: 24 Pages: 356-365
  • DOI: 10.1002/acn3.300
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Syndromic Adrenal Hypoplasia Caused by Activating SAMD9 Mutations (2016)
  • Author(s): Narumi S*, et al., Matsumoto N, et al.
  • Journal Title: Nature Genetics Volume: 48 Pages: 792-7
  • DOI: 10.1038/ng.3569
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Presentation] 稀少難治性疾患における遺伝子解析の現状と展望 (2019)
  • Author(s): 三宅紀子
  • Organizer: 日本小児遺伝学会
  • Invited
• [Presentation] A Japanese patient with a novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation (2018)
  • Author(s): Noriko Miyake, Shiro Ozasa, Hiroyo Mabe, Shigemi Kimura, Naomichi Matsumoto
  • Organizer: American Society of Human Genetics
  • Int'l Joint Research
• [Presentation] Genetic analysis of 18 Japanese families clinically diagnosed with Musculocontractural type Ehlers-Danlos syndrome (2018)
  • Author(s): Noriko Miyake, Tomoki Kosho, Naomichi Matsumoto
  • Organizer: International symposium on the Ehlers-Danlos syndromes
  • Int'l Joint Research
• [Presentation] 遺伝性疾患におけるゲノム解析の展望 (2018)
  • Author(s): 三宅紀子
  • Organizer: 日本人類遺伝学会
  • Int'l Joint Research
• [Presentation] TBCD mutations cause autosomal recessive inherited early childhood-onset neurodegenerative encephalopathy. (2017)
  • Author(s): Miyake N, Chihara T, Miura M, Shimizu H, Kakita A, Matsumoto N
  • Organizer: European Society of Human Genetics
  • Int'l Joint Research
• [Presentation] Biallelic TBCD mutations cause early childhood-onset neurodegenerative encephalopathy (2017)
  • Author(s): Miyake N, Chihara T, Miura M, Shimizu H, Kakita A, Matsumoto N
  • Organizer: The 12th International Workshop on Advanced Genomics
  • Int'l Joint Research
• [Presentation] Clinical features and the pathomechanism of early childhood-onset neurodegenerative encephalopathy arising from biallelic TBCD mutations (2017)
  • Author(s): Miyake N, Chihara T, Miura M, Shimizu H, Kakita A, Matsumoto N
  • Organizer: American Society of Human Genetics
  • Int'l Joint Research
• [Presentation] Early childhood-onset neurodegenerative encephalopathy caused by biallelic TBCD mutations (2017)
  • Author(s): Miyake N, Chihara T, Miura M, Shimizu H, Kakita A, Matsumoto N
  • Organizer: 日本人類遺伝学会
• [Presentation] Biallelic NUP107 mutations in early childhood-onset steroid resistant nephrotic syndrome (2016)
  • Author(s): N Miyake, H Tsukaguchi, E Koshimizu, A Shono, N Matsumoto
  • Organizer: American Society of Human Genetics 2016 Ａｎｎｕａｌ ｍｅｅting
  • Place of Presentation: Vancouver, Canada
  • Year and Date: 2016-10-16
  • Int'l Joint Research
• [Presentation] 小児循環器疾患における遺伝子解析の現状と問題点 (2016)
  • Author(s): 三宅紀子
  • Organizer: 第52回日本小児循環器学会
  • Place of Presentation: 東京ドームホテル、東京
  • Year and Date: 2016-07-06
  • Invited
• [Presentation] NUP107 mutations cause autosomal recessive inherited early childhood-onset steroid resistant Nephrotic syndrome (2016)
  • Author(s): N Miyake, H Tsukaguchi, E Koshimizu, A Shono, N Matsumoto
  • Organizer: The European Human Genetics Conference 2016
  • Place of Presentation: Barcelona, Spain
  • Year and Date: 2016-05-21
  • Int'l Joint Research
• [Presentation] 両アレル性NUP107変異は早期小児期発症ステロイド抵抗性ネフローゼ症候群を引き起こす (2016)
  • Author(s): 三宅紀子、塚口裕康、輿水江里子、庄野朱美、松本直通
  • Organizer: 第119回 日本小児科学会学術集会
  • Place of Presentation: ロイトン札幌、札幌
  • Year and Date: 2016-05-13
• [Presentation] Biallelic NUP107 mutations cause early childhood-onset steroid resistant Nephrotic syndrome (2016)
  • Author(s): Noriko Miyake, Hiroyasu Tsukaguchi, Eriko Koshimizu et al.
  • Organizer: The 13th International Congress of Human Genetics
  • Place of Presentation: 国立京都国際会館、京都
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Patent(Industrial Property Rights)] 重度の小児期早期発症神経変性脳症又はその保因者の検出方法 (2016)
  • Inventor(s): 松本直通、三宅紀子
  • Industrial Property Rights Holder: 松本直通、三宅紀子
  • Industrial Property Rights Type: 特許
  • Industrial Property Number: 2016-180356
  • Filing Date: 2016-09-15
  • Application Year: 2016