Exome-wide association study for Marfan syndrome and related disorders

• Project/Area Number: 17K15630
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Human genetics
• Research Institution: Yokohama City University
• Principal Investigator: Mizuguchi Takeshi 横浜市立大学, 医学部, 講師 (90404996)
• Project Period (FY): 2017-04-01 – 2019-03-31
• Project Status: Completed (Fiscal Year 2018)
• Budget Amount: ¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000); Fiscal Year 2018: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000); Fiscal Year 2017: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
• Keywords: Marfan syndrome / Exome / Burden test / 遺伝医学 / Exome-wide 相関解析 / マルファン症候群 / 遺伝学 / ゲノム / 遺伝子 / 次世代シーケンス / 遺伝子変異 / 全エクソーム解析

Outline of Final Research Achievements

We performed gene-based burden test using whole exome sequencing data of 431 cases with Marfan syndrome and related disorders, and 481 controls. In addition to known causative gene FBN1, our exome-wide association study identified MRF1 (pseudonym) as a possible candidate gene. MRF1 is a LoF intolerant gene with a higher rate of rare disruptive variants in cases compared to controls and expressed in human aortic tissue, suggesting possible link to Marfan syndrome.

Academic Significance and Societal Importance of the Research Achievements

マルファン症候群は1991年にその責任遺伝子の一つであるFBN1が単離され、以来主として欧米がリードする形で疾患遺伝子が解析されてきた。本邦では、小規模研究が散見されるのみで、罹患者の潜在的人口が高いと予想されるにもかかわらずこれまで全国規模の集約的研究がなかった。したがって日本において集約的研究を行うことは、臨床的意義が高く、患者のQOL向上に役立つと考える。つまり、関連遺伝子同定が達成されれば病的バリアントが同定された家系において適切な診断と高率に合併する大動脈瘤・解離などの予防的措置などの患者管理に極めて有望・有用な情報を提供する事となる。

Research Products

• [Journal Article] A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing (2019)
  • Author(s): Mizuguchi Takeshi、Suzuki Takeshi、Abe Chihiro、Umemura Ayako、Tokunaga Katsushi、Kawai Yosuke、Nakamura Minoru、Nagasaki Masao、Kinoshita Kengo、Okamura Yasunobu、Miyatake Satoko、Miyake Noriko、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 64 Issue: 5 Pages: 359-368
  • DOI: 10.1038/s10038-019-0569-5
  • Peer Reviewed
• [Journal Article] A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21 (2019)
  • Author(s): Mizuguchi Takeshi、Nakashima Mitsuko、Moey Lip H.、Ch’ng Gaik S.、Khoo Teik-Beng、Mitsuhashi Satomi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Saitsu Hirotomo、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 64 Issue: 4 Pages: 347-350
  • DOI: 10.1038/s10038-018-0556-2
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads (2019)
  • Author(s): Satomi Mitsuhashi, Martin C. Frith, Takeshi Mizuguchi, Satoko Miyatake, Tomoko Toyota, Hiroaki Adachi, Yoko Oma, Yoshihiro Kino, Hiroaki Mitsuhashi, Naomichi Matsumoto
  • Journal Title: Genome Biology Volume: 20 Issue: 1 Pages: 58-58
  • DOI: 10.1186/s13059-019-1667-6
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing (2019)
  • Author(s): Iwama Kazuhiro、Mizuguchi Takeshi、Miyatake Satoko、Matsumoto Naomichi、et al
  • Journal Title: Journal of Medical Genetics Volume: - Issue: 6 Pages: 396-407
  • DOI: 10.1136/jmedgenet-2018-105775
  • Peer Reviewed / Open Access
• [Journal Article] MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration (2019)
  • Author(s): Hamanaka K、Takata A、Uchiyama Y、Miyatake S、Miyake N、Mitsuhashi S、Iwama K、Fujita A、Imagawa E、Alkanaq AN、Koshimizu E、Azuma Y、Nakashima M、Mizuguchi T、Saitsu H、Wada Y、Minami S、Katoh-Fukui Y、Masunaga Y、Fukami M、Hasegawa T、Ogata T、Matsumoto N
  • Journal Title: Human Molecular Genetics Volume: 印刷中 Issue: 14 Pages: 2319-2329
  • DOI: 10.1093/hmg/ddz066
  • Peer Reviewed
• [Journal Article] Nonsense variants in STAG2 result in distinct sex-dependent phenotypes (2019)
  • Author(s): Aoi Hiromi、Lei Ming、Mizuguchi Takeshi、Nishioka Nobuko、Goto Tomohide、Miyama Sahoko、Suzuki Toshifumi、Iwama Kazuhiro、Uchiyama Yuri、Mitsuhashi Satomi、Itakura Atsuo、Takeda Satoru、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 64 Issue: 5 Pages: 487-492
  • DOI: 10.1038/s10038-019-0571-y
  • Peer Reviewed
• [Journal Article] Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation (2019)
  • Author(s): Matsumoto Ayumi、Nagashima Masako、Iwama Kazuhiro、Mizuguchi Takeshi、Makino Shinji、Ikeda Takahiro、Muramatsu Kazuhiro、Matsumoto Naomichi、Yamagata Takanori、Osaka Hitoshi
  • Journal Title: Brain and Development Volume: 印刷中 Issue: 8 Pages: 726-730
  • DOI: 10.1016/j.braindev.2019.04.009
  • Peer Reviewed
• [Journal Article] Intellectual disability and dysmorphic features in male siblings arising from a novel TAF1 mutation (2019)
  • Author(s): Okamoto Nobuhiko、Arai Hiroshi、Onishi Toshikazu、Mizuguchi Takeshi、Matsumoto Naomichi
  • Journal Title: Congenital Anomalies Volume: 印刷中 Issue: 1 Pages: 40-41
  • DOI: 10.1111/cga.12330
  • NAID: 210000012756
  • Peer Reviewed
• [Journal Article] Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases (2018)
  • Author(s): Mizuguchi Takeshi、Toyota Tomoko、Adachi Hiroaki、Miyake Noriko、Matsumoto Naomichi、Miyatake Satoko
  • Journal Title: Journal of Human Genetics Volume: 64 Issue: 3 Pages: 191-197
  • DOI: 10.1038/s10038-018-0551-7
  • Peer Reviewed
• [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: Human Molecular Genetics Volume: 27 Issue: 8 Pages: 1421-1433
  • DOI: 10.1093/hmg/ddy052
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A novel CYCS mutation in the α‐helix of the CYCS C‐terminal domain causes non‐syndromic thrombocytopenia (2018)
  • Author(s): Uchiyama Yuri、Yanagisawa Kunio、Kunishima Shinji、Shiina Masaaki、Ogawa Yoshiyuki、Nakashima Mitsuko、Hirato Junko、Imagawa Eri、Fujita Atsushi、Hamanaka Kohei、Miyatake Satoko、Mitsuhashi Satomi、Takata Atsushi、Miyake Noriko、Ogata Kazuhiro、Handa Hiroshi、Matsumoto Naomichi、Mizuguchi Takeshi
  • Journal Title: Clinical Genetics Volume: 94 Issue: 6 Pages: 548-553
  • DOI: 10.1111/cge.13423
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] SOFT syndrome in a patient from Chile (2018)
  • Author(s): Saida Ken、Silva Sebastian、Solar Benjamin、Fujita Atsushi、Hamanaka Kohei、Mitsuhashi Satomi、Koshimizu Eriko、Mizuguchi Takeshi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Matsumoto Naomichi
  • Journal Title: American Journal of Medical Genetics Part A Volume: 179 Issue: 3 Pages: 338-340
  • DOI: 10.1002/ajmg.a.61015
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies (2018)
  • Author(s): Hamanaka Kohei、Sugawara Yuji、Shimoji Takeyoshi、Nordtveit Tone Irene、Kato Mitsuhiro、Nakashima Mitsuko、Saitsu Hirotomo、Suzuki Toshimitsu、Yamakawa Kazuhiro、Aukrust Ingvild、Houge Gunnar、Miyatake Satoko、Matsumoto Naomichi、et al.
  • Journal Title: European Journal of Human Genetics Volume: 27 Issue: 3 Pages: 378-383
  • DOI: 10.1038/s41431-018-0289-x
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl (2018)
  • Author(s): Yuge K, Iwama K, Yonee C,--Matsuishi T
  • Journal Title: Brain Dev Volume: 40 Issue: 6 Pages: 493-497
  • DOI: 10.1016/j.braindev.2018.02.002
  • Peer Reviewed / Open Access / 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: Journal of Human Genetics Volume: 63 Issue: 4 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: J Hum Genet. Volume: 63(4) Issue: 4 Pages: 487-491
  • DOI: 10.1038/s10038-017-0404-9
  • Peer Reviewed / Int'l Joint Research
• [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: Annals of Neurology Volume: 83 Issue: 4 Pages: 794-806
  • DOI: 10.1002/ana.25208
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Biallelic COLGALT1 variants are associated with cerebral small vessel disease (2018)
  • Author(s): Miyatake Satoko、Schneeberger Sacha、Koyama Norihisa、Yokochi Kenji、Ohmura Kayo、、Hennet Thierry、Matsumoto Naomichi、et al
  • Journal Title: Annals of Neurology Volume: 84 Issue: 6 Pages: 843-853
  • DOI: 10.1002/ana.25367
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria (2018)
  • Author(s): Miyatake Satoko、Kato Mitsuhiro、Sawaishi Yukio、Saito Takashi、Nakashima Mitsuko、Mizuguchi Takeshi、Mitsuhashi Satomi、Takata Atsushi、Miyake Noriko、Saitsu Hirotomo、Matsumoto Naomichi
  • Journal Title: Annals of Neurology Volume: 84 Issue: 1 Pages: 159-161
  • DOI: 10.1002/ana.25256
  • Peer Reviewed
• [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: J Hum Genet Volume: 63(3) Issue: 3 Pages: 263-270
  • DOI: 10.1038/s10038-017-0405-8
  • Peer Reviewed
• [Journal Article] A novel SLC9A1 mutation causes cerebellar ataxia (2018)
  • Author(s): Iwama Kazuhiro、Osaka Hitoshi、Ikeda Takahiro、Mitsuhashi Satomi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Ito Shuichi、Mizuguchi Takeshi、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 63 Issue: 10 Pages: 1049-1054
  • DOI: 10.1038/s10038-018-0488-x
  • Peer Reviewed
• [Journal Article] PRUNE1-related disorder: Expanding the clinical spectrum (2018)
  • Author(s): Imagawa E.、Yamamoto Y.、Mitsuhashi S.、Isidor B.、Fukuyama T.、Kato M.、Sasaki M.、Tanabe S.、Miyatake S.、Mizuguchi T.、Takata A.、Miyake N.、Matsumoto N.
  • Journal Title: Clinical Genetics Volume: 94 Issue: 3-4 Pages: 362-367
  • DOI: 10.1111/cge.13385
  • Peer Reviewed
• [Journal Article] Novel SUZ12 mutations in Weaver-like syndrome (2018)
  • Author(s): Imagawa Eri、Albuquerque Edoarda V.A.、Isidor Bertrand、Mitsuhashi Satomi、Mizuguchi Takeshi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Boguszewski Margaret C.S.、Boguszewski C?sar L.、Lerario Antonio M.、Funari Mariana A.、Jorge Alexander A.L.、Matsumoto Naomichi
  • Journal Title: Clinical Genetics Volume: 94 Issue: 5 Pages: 461-466
  • DOI: 10.1111/cge.13415
  • Peer Reviewed
• [Journal Article] Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales (2018)
  • Author(s): Hamanaka K.、Takahashi K.、Miyatake S.、Mitsuhashi S.、Hamanoue H.、Miyaji Y.、Fukai R.、Doi H.、Fujita A.、Imagawa E.、Iwama K.、Nakashima M.、Mizuguchi T.、Takata A.、Miyake N.、Takeuchi H.、Tanaka F.、Matsumoto N.
  • Journal Title: Clinical Genetics Volume: 94 Issue: 2 Pages: 274-275
  • DOI: 10.1111/cge.13369
  • Peer Reviewed
• [Journal Article] Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic (2018)
  • Author(s): Hamanaka Kohei、Miyatake Satoko、Zerem Ayelet、Lev Dorit、Blumkin Luba、Yokochi Kenji、Fujita Atsushi、Imagawa Eri、Iwama Kazuhiro、Nakashima Mitsuko、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Miyake Noriko、Saitsu Hirotomo、van der Knaap Marjo S.、Lerman-Sagie Tally、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 63 Issue: 12 Pages: 1223-1229
  • DOI: 10.1038/s10038-018-0516-x
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy (2018)
  • Author(s): Hamanaka Kohei、Miyatake Satoko、Koshimizu Eriko、Matsumoto Naomichi、et al.
  • Journal Title: Genetics in Medicine Volume: - Issue: 7 Pages: 1629-1638
  • DOI: 10.1038/s41436-018-0360-6
  • Peer Reviewed
• [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: Journal of Human Genetics Volume: 63 Issue: 5 Pages: 673-676
  • DOI: 10.1038/s10038-018-0421-3
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy (2018)
  • Author(s): Belal Hazrat、Nakashima Mitsuko、Matsumoto Hiroshi、Yokochi Kenji、Taniguchi-Ikeda Mariko、Aoto Kazushi、Amin Mohammed Badrul、Maruyama Azusa、Nagase Hiroaki、Mizuguchi Takeshi、Miyatake Satoko、Miyake Noriko、Iijima Kazumoto、Nonoyama Shigeaki、Matsumoto Naomichi、Saitsu Hirotomo
  • Journal Title: Human Mutation Volume: 39 Issue: 8 Pages: 1070-1075
  • DOI: 10.1002/humu.23550
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] GRIN2D variants in three cases of developmental and epileptic encephalopathy (2018)
  • Author(s): Tsuchida Naomi、Hamada Keisuke、Shiina Masaaki、Kato Mitsuhiro、Kobayashi Yu、Tohyama Jun、Kimura Kazue、Hoshino Kyoko、Ganesan Vigneswari、Teik Keng W.、Nakashima Mitsuko、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Miyake Noriko、Saitsu Hirotomo、Ogata Kazuhiro、Miyatake Satoko、Matsumoto Naomichi
  • Journal Title: Clinical Genetics Volume: 94 Issue: 6 Pages: 538-547
  • DOI: 10.1111/cge.13454
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder (2018)
  • Author(s): Takata A, Miyake N, Tsurusaki Y, Fukai R, Miyatake S, Koshimizu E, Kushima I, Okada T, ...Matsumoto N.
  • Journal Title: Cell Reports Volume: 22(3) Issue: 3 Pages: 734-747
  • DOI: 10.1016/j.celrep.2017.12.074
  • Peer Reviewed / Open Access
• [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 Issue: 3 Pages: 577-587
  • DOI: 10.1111/cge.13144
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A novel mutation in SLC1A3 causes episodic ataxia (2017)
  • 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: Journal of Human Genetics Volume: 63 Issue: 2 Pages: 207-211
  • DOI: 10.1038/s10038-017-0365-z
  • Peer Reviewed
• [Journal Article] Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy (2017)
  • 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 Issue: 2 Pages: 266-274
  • DOI: 10.1111/cge.13061
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A familial case of PDE10A-associated childhood-onset chorea with bilateral striatal lesions (2017)
  • 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: Movement Disorders Volume: 33 Issue: 1 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 in Schuurs-Hoeijmakers syndrome (2017)
  • 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: Clinical Genetics Volume: 93 Issue: 4 Pages: 929-930
  • DOI: 10.1111/cge.13105
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia (2017)
  • Author(s): Uchiyama Y, Ogawa Y, Kunishima S, Shiina M, Nakashima M, Yanagisawa K, Yokohama A, Imagawa E, Miyatake S, Mizuguchi T, Takata A, Miyake N, Ogata K, Handa H, Matsumoto N
  • Journal Title: British Journal of Haematology Volume: 印刷中 Issue: 6 Pages: 843-847
  • DOI: 10.1111/bjh.14710
  • Peer Reviewed / Acknowledgement Compliant
• [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: Journal of Human Genetics Volume: 62 Issue: 5 Pages: 525-529
  • DOI: 10.1038/jhg.2016.163
  • NAID: 40021210259
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [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 Issue: 8 Pages: 741-746
  • DOI: 10.1038/jhg.2017.24
  • Peer Reviewed / 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: American Journal of Human Genetics Volume: 100 Issue: 1 Pages: 169-178
  • DOI: 10.1016/j.ajhg.2016.11.017
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [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 Issue: 5 Pages: 554-555
  • DOI: 10.1111/cge.13023
  • Peer Reviewed
• [Journal Article] An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination. (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 Issue: 11 Pages: 997-1000
  • DOI: 10.1038/jhg.2017.77
  • Peer Reviewed
• [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: Clinical Genetics Volume: - Issue: 2 Pages: 180-187
  • DOI: 10.1111/cge.12991
  • Peer Reviewed / 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: Human Mutation Volume: 印刷中 Issue: 6 Pages: 637-648
  • DOI: 10.1002/humu.23200
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Presentation] Identifying Pathogenic Structural Variant in Unresolved Case of Epilepsy from PacBio Long-read WGS (2019)
  • Author(s): 水口 剛
  • Organizer: Human Genome Meeting 2019
  • Int'l Joint Research / Invited
• [Presentation] Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders (2018)
  • Author(s): 水口 剛
  • Organizer: 日本人類遺伝学会第63回大会