Development and assessment of a pathogenic mutations search method for individuals who are difficult to identify the mutations in standard-exome analysis

• Project/Area Number: 16K07211
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Medical genome science
• Research Institution: Tokyo Medical and Dental University
• Principal Investigator: Miya Fuyuki 東京医科歯科大学, 難治疾患研究所, 講師 (50415311)
• Project Period (FY): 2016-04-01 – 2019-03-31
• Project Status: Completed (Fiscal Year 2018)
• Budget Amount: ¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000); Fiscal Year 2018: ¥520,000 (Direct Cost: ¥400,000、Indirect Cost: ¥120,000); Fiscal Year 2017: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000); Fiscal Year 2016: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
• Keywords: エクソーム解析 / 疾患遺伝子変異 / 遺伝性疾患 / 次世代シーケンサー / CNV解析 / ミトコンドリア / 全ゲノムシーケンス / 疾患原因変異同定手法開発 / 次世代シーケンスのバイオインフォマティクス / 生体生命情報学 / 脳神経疾患 / バイオテクノロジー / 遺伝子 / 遺伝学

Outline of Final Research Achievements

Whole-exome sequencing (WES) using next generation sequencing is a useful method to identify disease-causing mutations. However, often no candidate mutations are identified using commonly available methods. The reported success rate of WES for Mendelian diseases is around 30% worldwide.
We have developed an integrative analysis methodology to identify pathogenic mutations. The analysis methodology consists of the following 6 methods: 1) standard variants calling method, 2) detection of intermediate-size insertions and deletions (indels) using our own developed method, 3) copy number variants analysis for WES data, 4) analysis of mitochondrial DNA for WES data, and 5) domain enrichment analysis for candidate mutations. Through this combinatorial method, it becomes possible to identify variants and structural abnormalities that had been difficult to search and identify previously. Also, the method makes it possible to expand the limits of mutation detection of standard WES analysis.

Academic Significance and Societal Importance of the Research Achievements

我々の研究成果で疾患の遺伝子変異を同定する新たな手法論を構築し発表することで、その同定率を10%以上増やすことができた。解析手法を改良することによって、未同定疾患原因変異の新たな発見も可能であることを証明したことで、将来的な解析への応用は当然であるが、過去データの再検証で新規原因変異が同定されることも期待される。病気の原因変異が分かると、病気のメカニズム解明や薬剤ターゲット候補の発見、将来の発症予測、等に役立たせることができ、本成果は今後その一助になると考えられる。

Research Products

• [Journal Article] MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome (2019)
  • Author(s): Kato Kohji、Miya Fuyuki、Hamada Nanako、Negishi Yutaka、Narumi-Kishimoto Yoko、Ozawa Hiroshi、Ito Hidenori、Hori Ikumi、Hattori Ayako、Okamoto Nobuhiko、Kato Mitsuhiro、Tsunoda Tatsuhiko、Kanemura Yonehiro、Kosaki Kenjiro、Takahashi Yoshiyuki、Nagata Koh-ichi、Saitoh Shinji
  • Journal Title: Journal of Medical Genetics Volume: 印刷中 Issue: 6 Pages: 388-395
  • DOI: 10.1136/jmedgenet-2018-105487
  • Peer Reviewed / Open Access
• [Journal Article] Refractory epilepsy and regression in a patient with a <i>de novo</i> heterozygous <i>POGZ</i> mutation (2019)
  • Author(s): 山形 誠也、齋藤 伸治、服部 文子、宮 冬樹、久保田 裕子、遠藤 剛、根岸 豊、中村 勇治、角田 達彦、小崎 健次郎
  • Journal Title: NO TO HATTATSU Volume: 51 Issue: 1 Pages: 29-32
  • DOI: 10.11251/ojjscn.51.29
  • NAID: 130007604558
  • ISSN: 0029-0831, 1884-7668
  • Peer Reviewed
• [Journal Article] Gene expression dataset for whole cochlea of Macaca fascicularis (2018)
  • Author(s): Hideki Mutai, Fuyuki Miya, Hiroaki Shibata, Yasuhiro Yasutomi, Tatsuhiko Tsunoda, Tatsuo Matsunaga
  • Journal Title: Scientific Reports Volume: 8 Issue: 1 Pages: 15554-15554
  • DOI: 10.1038/s41598-018-33985-9
  • Peer Reviewed / Open Access
• [Journal Article] Genome-wide association study suggests four variants influencing outcomes with ranibizumab therapy in exudative age-related macular degeneration. (2018)
  • Author(s): Akiyama M, Takahashi A, Momozawa Y, Arakawa S, Miya F, Tsunoda T, Ashikawa K, Oshima Y, Yasuda M, Yoshida S, Enaida H, Tan X, Yanagi Y, Yasukawa T, Ogura Y, Nagai Y, Takahashi K, Fujisawa K, Inoue M, Arakawa A, Tanaka K, Yuzawa M, Kadonosono K, Sonoda KH, Ishibashi T, Kubo M.
  • Journal Title: J Hum Genet Volume: 63 Issue: 10 Pages: 1083-1091
  • DOI: 10.1038/s10038-018-0493-0
  • Peer Reviewed
• [Journal Article] A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome (2018)
  • Author(s): Hori Ikumi、Miya Fuyuki、Negishi Yutaka、Hattori Ayako、Ando Naoki、Boroevich Keith A.、Okamoto Nobuhiko、Kato Mitsuhiro、Tsunoda Tatsuhiko、Yamasaki Mami、Kanemura Yonehiro、Kosaki Kenjiro、Saitoh Shinji
  • Journal Title: Journal of Human Genetics Volume: 63 Issue: 9 Pages: 957-963
  • DOI: 10.1038/s10038-018-0482-3
  • Peer Reviewed
• [Journal Article] A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10 (2018)
  • Author(s): Noriomi Suzuki, Hideki Mutai, Fuyuki Miya, Tatsuhiko Tsunoda, Hiroshi Terashima, Noriko Morimoto, and Tatsuo Matsunaga
  • Journal Title: BMC Pediatrics Volume: 18 Issue: 1 Pages: 171-171
  • DOI: 10.1186/s12887-018-1139-2
  • Peer Reviewed / Open Access
• [Journal Article] IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis (2018)
  • Author(s): Shigemizu Daichi、Miya Fuyuki、Akiyama Shintaro、Okuda Shujiro、Boroevich Keith A、Fujimoto Akihiro、Nakagawa Hidewaki、Ozaki Kouichi、Niida Shumpei、Kanemura Yonehiro、Okamoto Nobuhiko、Saitoh Shinji、Kato Mitsuhiro、Yamasaki Mami、Matsunaga Tatsuo、Mutai Hideki、Kosaki Kenjiro、Tsunoda Tatsuhiko
  • Journal Title: Scientific Reports Volume: 8 Issue: 1 Pages: 5608-5608
  • DOI: 10.1038/s41598-018-23978-z
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Discovery of a Cynomolgus Monkey Family With Retinitis Pigmentosa (2018)
  • Author(s): Ikeda Yasuhiro、Nishiguchi Koji M.、Miya Fuyuki、Shimozawa Nobuhiro、Funatsu Jun、Nakatake Shunji、Fujiwara Kohta、Tachibana Takashi、Murakami Yusuke、Hisatomi Toshio、Yoshida Shigeo、Yasutomi Yasuhiro、Tsunoda Tatsuhiko、Nakazawa Toru、Ishibashi Tatsuro、Sonoda Koh-Hei
  • Journal Title: Investigative Opthalmology & Visual Science Volume: 59 Issue: 2 Pages: 826-826
  • DOI: 10.1167/iovs.17-22958
  • Peer Reviewed / Open Access
• [Journal Article] Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non-lethal form of Raine syndrome (2018)
  • Author(s): Tamai Kei、Tada Katsuhiko、Takeuchi Akihito、Nakamura Makoto、Marunaka Hidenori、Washio Yosuke、Tanaka Hiroyuki、Miya Fuyuki、Okamoto Nobuhiko、Kageyama Misao
  • Journal Title: American Journal of Medical Genetics Part A Volume: 176 Issue: 3 Pages: 682-686
  • DOI: 10.1002/ajmg.a.38598
  • Peer Reviewed
• [Journal Article] A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate (2017)
  • Author(s): Kato Koji、Miya Fuyuki、Hori Ikumi、Ieda Daisuke、Ohashi Kei、Negishi Yutaka、Hattori Ayako、Okamoto Nobuhiko、Kato Mitsuhiro、Tsunoda Tatsuhiko、Yamasaki Mami、Kanemura Yonehiro、Kosaki Kenjiro、Saitoh Shinji
  • Journal Title: Journal of Human Genetics Volume: 62 Issue: 9 Pages: 861-863
  • DOI: 10.1038/jhg.2017.53
  • Peer Reviewed
• [Journal Article] A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology (2017)
  • Author(s): Okamoto Nobuhiko、Tsuchiya Yuki、Miya Fuyuki、Tsunoda Tatsuhiko、Yamashita Kumiko、Boroevich Keith A.、Kato Mitsuhiro、Saitoh Shinji、Yamasaki Mami、Kanemura Yonehiro、Kosaki Kenjiro、Kitagawa Daiju
  • Journal Title: American Journal of Medical Genetics Part A Volume: 173 Issue: 10 Pages: 2690-2696
  • DOI: 10.1002/ajmg.a.38391
  • Peer Reviewed / Open Access
• [Journal Article] Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. (2017)
  • Author(s): Hosoe J, Kadowaki H, Miya F, Aizu K, Kawamura T, Miyata I, Satomura K, Ito T, Hara K, Tanaka M, Ishiura H, Tsuji S, Suzuki K, Takakura M, Boroevich KA, Tsunoda T, Yamauchi T, Shojima N, Kadowaki T
  • Journal Title: Diabetes Volume: 66 Issue: 10 Pages: 2713-2723
  • DOI: 10.2337/db17-0301
  • NAID: 40021637919
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement (2017)
  • Author(s): Hori Ikumi、Otomo Takanobu、Nakashima Mitsuko、Miya Fuyuki、et al.、Saitoh Shinji
  • Journal Title: Scientific Reports Volume: 7 Issue: 1 Pages: 3552-3552
  • DOI: 10.1038/s41598-017-02840-8
  • Peer Reviewed / Open Access
• [Journal Article] Siblings with optic neuropathy and RTN4IP1 mutation (2017)
  • Author(s): Okamoto Nobuhiko、Miya Fuyuki、Hatsukawa Yoshikazu、Suzuki Yasuhiro、Kawato Kazumi、Yamamoto Yuto、Tsunoda Tatsuhiko、Kato Mitsuhiro、Saitoh Shinji、Yamasaki Mami、Kanemura Yonehiro、Kosaki Kenjiro
  • Journal Title: Journal of Human Genetics Volume: 62 Issue: 10 Pages: 927-929
  • DOI: 10.1038/jhg.2017.68
  • Peer Reviewed
• [Journal Article] Polygenic burdens on cell-specific pathways underlie the risk of rheumatoid arthritis (2017)
  • Author(s): Ishigaki Kazuyoshi、Kochi Yuta、Suzuki Akari、Tsuchida Yumi、Tsuchiya Haruka、Sumitomo Shuji、Yamaguchi Kensuke、Nagafuchi Yasuo、Nakachi Shinichiro、Kato Rika、Sakurai Keiichi、Shoda Hirofumi、Ikari Katsunori、Taniguchi Atsuo、Yamanaka Hisashi、Miya Fuyuki、Tsunoda Tatsuhiko、et al.、Yamamoto Kazuhiko
  • Journal Title: Nature Genetics Volume: 49 Issue: 7 Pages: 1120-1125
  • DOI: 10.1038/ng.3885
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] The prediction models for postoperative overall survival and disease-free survival in patients with breast cancer (2017)
  • Author(s): Shigemizu Daichi、Iwase Takuji、Yoshimoto Masataka、Suzuki Yasuyo、Miya Fuyuki、Boroevich Keith A、Katagiri Toyomasa、Zembutsu Hitoshi、Tsunoda Tatsuhiko
  • Journal Title: Cancer Medicine Volume: 6 Issue: 7 Pages: 1627-1638
  • DOI: 10.1002/cam4.1092
  • NAID: 120006894608
  • Peer Reviewed / Open Access
• [Journal Article] Identification of a human clonogenic progenitor with strict monocyte differentiation potential: A counterpart of mouse cMoPs (2017)
  • Author(s): Kawamura S, Onai N, Miya F, Sato T, Tsunoda T, Kurabayashi K, Yotsumoto S, Kuroda S, Takenaka K, Akashi K, Ohteki T
  • Journal Title: Immunity Volume: 46 Issue: 5 Pages: 835-848
  • DOI: 10.1016/j.immuni.2017.04.019
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Novel MCA/ID syndrome with ASH1L mutation. (2017)
  • Author(s): Okamoto N, Miya F, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K.
  • Journal Title: Am. J. Med. Genet. A Volume: 印刷中 Issue: 6 Pages: 1644-1648
  • DOI: 10.1002/ajmg.a.38193
  • Peer Reviewed
• [Journal Article] A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. (2017)
  • Author(s): Negishi Y, Miya F, Hattori A, Johmura Y, Nakagawa M, Ando N, Hori I, Togawa T, Aoyama K, Ohashi K, Fukumura S, Mizuno S, Umemura A, Kishimoto Y, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Nakanishi M, Saitoh S.
  • Journal Title: BMC Med Genet. Volume: 18 Issue: 1 Pages: 4-4
  • DOI: 10.1186/s12881-016-0363-6
  • Peer Reviewed / Open Access
• [Journal Article] Role of a heterotrimeric G-protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability. (2016)
  • Author(s): Hamada, N., Negishi, Y., Mizuno, M., Miya, F., Hattori, A., Okamoto, N., Kato, M., Tsunoda, T., Yamasaki, M., Kanemura, Y., Kosaki, K., Tabata, H., Saitoh, S., Nagata, K.-I.
  • Journal Title: J. Neurochem. Volume: 140 Issue: 1 Pages: 82-95
  • DOI: 10.1111/jnc.13878
  • Peer Reviewed
• [Journal Article] Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy. (2016)
  • Author(s): Tsutsumi M, Yokoi S, Miya F, Miyata M, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S, *Kurahashi H.
  • Journal Title: Eur J Hum Genet Volume: 24 Issue: 12 Pages: 1702-1706
  • DOI: 10.1038/ejhg.2016.119
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Novel Splicing Mutation in the ASXL3 gene causing Bainbridge-Ropers Syndrome. (2016)
  • Author(s): Hori I, Miya F, Ohashi K, Negishi Y, Hattori A, Ando N, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S.
  • Journal Title: Am. J. Med. Genet. A Volume: 170 Issue: 7 Pages: 1863-1867
  • DOI: 10.1002/ajmg.a.37653
  • Peer Reviewed
• [Journal Article] ALDH18A1-related cutis laxa syndrome with cyclic vomiting. (2016)
  • Author(s): Nozaki F, Kusunoki T, Okamoto N, Yamamoto Y, Miya F, Tsunoda T, Kosaki K, Kumada T, Shibata M, Fujii T.
  • Journal Title: Brain Dev. Volume: 38 Issue: 7 Pages: 678-684
  • DOI: 10.1016/j.braindev.2016.01.003
  • Peer Reviewed
• [Presentation] Identification of SLC12A2 as a Candidate Deafness Gene in Human. (2019)
  • Author(s): utai H, Wasano K, Momozawa Y, Kamatani Y, Miya F, Masuda S, Morimoto N, Nara K, Takahashi S, Tsunoda T, Homma K, Michiaki Kubo M, Matsunaga T.
  • Organizer: Association for Research in Otolaryngology (ARO) 42nd Annual Midwinter Meeting
  • Int'l Joint Research
• [Presentation] 3家系より同定された新規難聴原因候補SLC12A2と変異の機能解析（SLC12A2 was identified as a candidate of novel deafness gene from 3 families） (2018)
  • Author(s): 務台 英樹、和佐野 浩一郎、桃沢 幸秀、鎌谷 洋一郎、宮 冬樹、奈良 清光、タカハシサトエ、角田 達彦、本間 和明、久保 充明、松永 達雄
  • Organizer: 第41回 日本分子生物学会年会
• [Presentation] Beyond the limitations of exome analysis for genetic disorders（exome解析による疾患原因変異探索の限界を突破するための手法の検証） (2018)
  • Author(s): 宮 冬樹, 重水 大智, 金村 米博, 齋藤 伸治, 岡本 伸彦, 加藤 光広, 松永 達雄, 務台 英樹, 小崎 健次郎, 角田 達彦
  • Organizer: 日本人類遺伝学会第63回大会
• [Presentation] Structural basis of mutations of the tyrosine kinase domain in INSR and the relations with clinical severity.（インスリン受容体 tyrosine kinase domainをコードする遺伝子変異に伴うタンパク質立体障害と臨床的重症度の関連） (2018)
  • Author(s): Hosoe J, Kadowaki H, Miya F, Takakura M, Tanaka M, Ishiura H, Tsuji S, Tsundoa T, Sshojima N, Yamauchi T, Kadowaki T.
  • Organizer: 日本人類遺伝学会第63回大会
• [Presentation] A de novo gain-of-function mutation in MYCN causes a novel megalencephaly syndrome (2018)
  • Author(s): Kato K, Miya F, Hamada N, Negishi Y, Narumi-Kishimoto Y, Ozawa H, Ito H, Hori I, Hattori A, Okamoto N, Kato M, Tsunoda T, Kanemura Y, Kosaki K, Takahashi Y, Nagata K, Saitoh S.
  • Organizer: 日本人類遺伝学会第63回大会
• [Presentation] Whole Exome Sequencingにより同定された新規難聴原因候補SLC12A2とその変異 (2018)
  • Author(s): 務台 英樹、和佐野 浩一郎、桃沢 幸秀、鎌谷 洋一郎、宮 冬樹、奈良 清光、角田 達彦、本間 和明、久保 充明、松永 達雄
  • Organizer: 日本人類遺伝学会第63回大会
• [Presentation] A de novo gain-of-function mutation in MYCN causes a novel megalencephaly syndrome (2018)
  • Author(s): Kato K, Miya F, Hamada N, Negishi Y, Narumi-Kishimoto Y, Ozawa H, Ito H, Hori I, Hattori A, Okamoto N, Kato M, Tsunoda T, Kanemura Y, Kosaki K, Takahashi Y, Nagata K, Saitoh S
  • Organizer: The American Society of Human Genetics
  • Int'l Joint Research
• [Presentation] 小児骨肉腫における肺転移症例に特徴的なゲノム異常 (2018)
  • Author(s): 巽 康年、米本 司、宮 冬樹、角田 達彦、鴨田 博人、石井 猛、大平 美紀、永瀬 浩喜、下里 修、岩田 慎太郎
  • Organizer: 第77回 日本癌学会学術総会
• [Presentation] Genotype-phenotype Correlations and Structural Basis of the Pathogenic Mutations in INSR and IGF1R (2018)
  • Author(s): Hosoe J, Kadowaki H, Miya F, Takakura M, Suzuki K, Tsunoda T, Shojima N, Yamauchi T, Kadowaki T.
  • Organizer: The 78th Scientific Sessions of the American Diabetes Association
  • Int'l Joint Research
• [Presentation] PI3K-AKT-mTOR経路異常による巨脳症の臨床的・分子遺伝学的・生化学的検討 (Clinical, genetic, and biochemical analyses for PI3K-AKT-mTOR pathway-associated megalencephaly) (2018)
  • Author(s): 堀 いくみ, 宮 冬樹,中村 勇治,家田 大輔,根岸 豊,服部 文子,角田 達彦,金村 米博,小崎 健次郎,齋藤 伸治
  • Organizer: 第60回日本小児神経学会学術集会
• [Presentation] Beyond the limitations of exome analysis for genetic disorders (2018)
  • Author(s): Fuyuki Miya
  • Organizer: The 13th International Symposium of the Institute Network for Biomedical Sciences joint with the 28th Hot Spring Harbor Symposium
  • Int'l Joint Research / Invited
• [Presentation] 頭部外傷を契機に精査診断に至ったSotos症候群の乳児例 (2018)
  • Author(s): 四本 由郁, 原田 敦子, 宮 冬樹, 金村 米博, 岡本 伸彦, 角田 達彦, 加藤 光広, 齋藤 伸治, 小崎 健次郎, 玉置 知子
  • Organizer: 第40回日本小児遺伝学会学術集会
• [Presentation] RAB11B遺伝子異常による新規Neurogenetic syndrome (2018)
  • Author(s): 岡本伸彦, 宮 冬樹, 加藤光広, 金村米博, 齋藤伸治, 角田達彦, 小崎健次郎
  • Organizer: 第40回日本小児遺伝学会学術集会
• [Presentation] 異所性灰白質，多小脳回，口蓋裂を呈し，NEDD4Lに新規のミスセンス変異を認めた1例 (2018)
  • Author(s): 加藤 耕治, 宮 冬樹, 中村 勇治, 家田 大輔, 堀 いくみ, 根岸 豊, 服部 文子, 齋藤 伸治
  • Organizer: 第40回日本小児遺伝学会学術集会
• [Presentation] 既存のexome解析では疾患原因変異同定が困難な検体の原因変異探索手法の開発 (2017)
  • Author(s): 宮 冬樹, 重水 大智, 金村 米博, 齋藤 伸治, 岡本 伸彦, 加藤 光広, 山崎 麻美, 松永 達雄, 務台 英樹, 小崎 健次郎, 角田 達彦
  • Organizer: 日本人類遺伝学会 第62回大会
• [Presentation] 疾患原因変異発見のための正確な中間サイズインデル検出法の開発 (2017)
  • Author(s): 重水 大智, 宮 冬樹, 秋山 真太郎, 奥田 修二郎, Keith Boroevich, 藤本 明洋, 中川 英刀, 尾崎 浩一, 新飯田 俊平, 金村 米博, 岡本 伸彦, 齋藤 伸治, 加藤 光広, 山崎 麻美, 松永 達雄, 務台 英樹, 小崎 健次郎, 角田 達彦
  • Organizer: 日本人類遺伝学会 第62回大会
• [Presentation] PI3K-AKT-mTOR経路異常による巨脳症の臨床的・分子遺伝学的・生化学的検討 (2017)
  • Author(s): 堀 いくみ、根岸 豊、宮 冬樹、角田 達彦、金村 米博、小崎 健次郎、齋藤 伸治
  • Organizer: 日本人類遺伝学会 第62回大会
• [Presentation] Dandy-Walker症候群をきたしたプラスミノゲン欠損症例の経過と遺伝カウンセリング (2017)
  • Author(s): 原田敦子，四本由郁，夫律子，高畑靖子，宮 冬樹，金村米博，岡本伸彦，角田達彦，加藤光広，齋藤信治，小崎健次郎，山崎麻美，玉置知子
  • Organizer: 日本人類遺伝学会 第62回大会
• [Presentation] インスリン受容体遺伝子フィブロロネクチンタイプ 3 ドメインにおける遺伝子変異の蛋白質立体構造への影響と臨床的重症度の関連 (2017)
  • Author(s): 細江 隼, 門脇 弘子, 宮 冬樹, 高倉 美菜香, 会津 克哉, 宮田 市郎, 川村 智行, 里村 憲一, 伊東 建, 原 一雄, 田中 真生, 石浦 浩之, 辻 省次, 鈴木 顕, 角田 達彦, 庄嶋 伸浩, 山内 敏正, 門脇 孝
  • Organizer: 日本人類遺伝学会 第62回大会
• [Presentation] PNKP遺伝子に複合へテロ変異を認めた難治性てんかんの一例 (2017)
  • Author(s): 緒方 怜奈, 宮 冬樹, 加藤 光広
  • Organizer: 第51回 日本てんかん学会学術集会
• [Presentation] インスリン受容体遺伝子変異に関するタンパク質立体構造への影響と表現型の相関 (2017)
  • Author(s): 細江 隼、門脇 弘子、宮 冬樹、会津 克哉、宮田 市郎、川村 智行、里村 憲一、鈴木 顕、高倉 美菜香、角田 達彦、山内 敏正、庄嶋 伸浩、門脇 孝
  • Organizer: 第60回日本糖尿病学会年次学術集会
• [Presentation] evere Insulin Resistance Caused by Mutations in INSR: Genotype-phenotype Correlations and Structural Characterization of the Mutations (2017)
  • Author(s): Jun Hosoe, Hiroko Kadowaki, Fuyuki Miya, Ichiro Miyata, Aizu Katsuya, Tomoyuki Kawamura, Kenichi Satomura, Takeru Ito, Tatsuhiko Tsunoda, Toshimasa Yamauchi, Nobuhiro Shojima, Takashi Kadowaki
  • Organizer: The 77th Scientific Sessions of the American Diabetes Association
  • Int'l Joint Research
• [Presentation] 既存のexome解析では疾患原因変異同定が困難な検体の原因変異探索手法の開発 (2017)
  • Author(s): 宮 冬樹, 重水 大智, 齋藤 伸治, 須藤 章, 中川 英刀, 奥田 修二郎, 岡本 伸彦, 加藤 光広, 山崎 麻美, Keith A. Boroevich, 金村 米博, 小崎 健次郎, 角田 達彦
  • Organizer: 次世代現場の会 第5回研究会
• [Presentation] Novel compound heterozygous variants in PLK4 cause microcephaly and chorioretinopathy (2017)
  • Author(s): 横井摂理, 堤真紀子, 宮冬樹, 宮田昌史, 加藤光広, 岡本伸彦, 角田達彦, 山崎麻美, 金村米博, 小崎健次郎, 齋藤伸治, 倉橋浩樹
  • Organizer: 第59回小児神経学会
• [Presentation] Clinical heterogeneity of genetically confirmed nine patients with Vici syndrome. (2017)
  • Author(s): Shinji Saitoh, Ikumi Hori, Takanobu Otomo, Mitsuko Nakashima, Fuyuki Miya, Yutaka Negishi, Ayako Hattori, Tatsuhiko Tsunoda, Naomichi Matsumoto, Tamotsu Yoshimori
  • Organizer: 14th Asian and Oceanian Congress of Child Neurology (AOCCN)
  • Int'l Joint Research
• [Presentation] A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations. (2016)
  • Author(s): Fuyuki Miya, Mitsuhiro Kato, Tadashi Shiohama, Nobuhiko Okamoto, Shinji Saitoh, Mami Yamasaki, Daichi Shigemizu, Tetsuo Abe, Takashi Morizono, Keith A. Boroevich, Kenjiro Kosaki, Yonehiro Kanemura, Tatsuhiko Tsunoda.
  • Organizer: ICHG (The 13th International Congress of Human Genetics)
  • Place of Presentation: Kyoto International Conference Center, Kyoto, Japan
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Remarks] 東京医科歯科大学 難治疾患研究所 医科学数理分野
  • URL: http://www.tmd.ac.jp/mesm/index.html