Coffin-Siris症候群の新規責任遺伝子探索及び分子病理の解明

2014 Fiscal Year Annual Research Report

• Project/Area Number: 25860915
• Research Institution: Yokohama City University
• Principal Investigator: 鶴崎 美徳 横浜市立大学, 医学部, 助教 (70392040)
• Project Period (FY): 2013-04-01 – 2015-03-31
• Keywords: コフィン・サイリス症候群 / 全エクソーム解析

Outline of Annual Research Achievements

BAF複合体の構成サブユニットをコードする遺伝子群に異常を認めないコフィン-サイリス症候群症例とその両親のゲノムDNAを用いて、次世代シークエンサーによる全エクソーム解析を行った。その結果、2例においてSOX11にde novo変異を見出した。転写因子であるSOX11はBAF複合体ネットワークの下流で、神経細胞の分化制御などに重要な役割を果たしていることが報告されている。本遺伝子がヒトの脳組織で発現していること定量PCR法により確認し、モデル実験動物のゼブラフィッシュにおいて、モルフォリノアンチセンスオリゴにより相同遺伝子の機能を阻害すると、頭部の縮小、中枢神経の細胞死などの異常が認められ、CSSの症状を模倣していた。これまでにCSS症例では、BAF複合体の構成サブユニットをコードする5つの遺伝子の変異が報告されていたが、新たにSOX11が同定されたことにより、本疾患の遺伝子診断の正確性が向上した。また、新たな責任遺伝子が解明されたことで、さらにCSSの病態解明と治療・予防法の開発に進展することが期待される。

Research Products

• [Journal Article] Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy. (2015)
  • Author(s): Kodera H, Osaka H, Iai M, Aida N, Yamashita A, Tsurusaki Y, Nakashima M, Miyake N, Saitsu H, Matsumoto N.
  • Journal Title: J Hum Genet. Volume: 60 Pages: 97-101
  • DOI: 10.1038/jhg.2014.103. Epub 2014 Dec 4.
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy. (2015)
  • Author(s): Miyatake S, Tada H, Moriya S, Takanashi J, Hirano Y, Hayashi M, Oya Y, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H.
  • Journal Title: Clin Genet. Volume: 87 Pages: 395-397
  • DOI: 10.1111/cge.12455. Epub 2014 Sep 8.
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation. (2015)
  • Author(s): Kodera H, Ando N, Yuasa I, Wada Y, Tsurusaki Y, Nakashima M, Miyake N, Saitoh S, Matsumoto N, Saitsu H.
  • Journal Title: Clin Genet. Volume: 57 Pages: 455-460
  • DOI: 10.1111/cge.12417. Epub 2014 May 24.
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy. (2015)
  • Author(s): Nakajima J, Okamoto N, Tohyama J, Kato M, Arai H, Funahashi O, Tsurusaki Y, Nakashima M, Kawashima H, Saitsu H, Matsumoto N, Miyake N.
  • Journal Title: Clin Genet. Volume: 87 Pages: 356-361
  • DOI: 10.1111/cge.12394. Epub 2014 Apr 29.
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome. (2014)
  • Author(s): Nakashima M, Miyajima M, Sugano H, Iimura Y, Kato M, Tsurusaki Y, Miyake N, Saitsu H, Arai H, Matsumoto N.
  • Journal Title: J Hum Genet. Volume: 59 Pages: 691-693
  • DOI: 10.1038/jhg.2014.95. Epub 2014 Nov 6.
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly. (2014)
  • Author(s): Saitsu H, Yamashita S, Tanaka Y, Tsurusaki Y, Nakashima M, Miyake N, Matsumoto N.
  • Journal Title: J Hum Genet. Volume: 59 Pages: 687-690
  • DOI: 10.1038/jhg.2014.91. Epub 2014 Oct 16.
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing. (2014)
  • Author(s): Suzuki T, Tsurusaki Y, Nakashima M, Miyake N, Saitsu H, Takeda S, Matsumoto N.
  • Journal Title: J Hum Genet. Volume: 59 Pages: 649-654
  • DOI: 10.1038/jhg.2014.88. Epub 2014 Oct 9.
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa. (2014)
  • Author(s): Katagiri S, Akahori M, Sergeev Y, Yoshitake K, Ikeo K, Furuno M, Hayashi T, Kondo M, Ueno S, Tsunoda K, Shinoda K, Kuniyoshi K, Tsurusaki Y, Matsumoto N, Tsuneoka H, Iwata T.
  • Journal Title: PLoS One. Volume: 9 Pages: e108721-e108721
  • DOI: 10.1371/journal.pone.0108721. eCollection 2014.
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] 'Cortical cerebellar atrophy' dwindles away in the era of next-generation sequencing. (2014)
  • Author(s): Yoshida K, Miyatake S, Kinoshita T, Doi H, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N.
  • Journal Title: J Hum Genet. Volume: 59 Pages: 589-590
  • DOI: 10.1038/jhg.2014.75. Epub 2014 Sep 11.
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation. (2014)
  • Author(s): Saitsu H, Tohyama J, Walsh T, Kato M, Kobayashi Y, Lee M, Tsurusaki Y, Miyake N, Goto Y, Nishino I, Ohtake A, King MC, Matsumoto N.
  • Journal Title: J Hum Genet. Volume: 59 Pages: 581-583
  • DOI: 10.1038/jhg.2014.71. Epub 2014 Aug 7.
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Numerous BAF complex genes are mutated in Coffin-Siris syndrome. (2014)
  • Author(s): Miyake N, Tsurusaki Y, Matsumoto N.
  • Journal Title: Am J Med Genet C Semin Med Genet. Volume: 166C Pages: 257-261
  • DOI: 10.1002/ajmg.c.31406. Epub 2014 Jul 31.
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss. (2014)
  • Author(s): Nakashima M, Takano K, Osaka H, Aida N, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N.
  • Journal Title: J Hum Genet. Volume: 59 Pages: 471-474
  • DOI: 10.1038/jhg.2014.51. Epub 2014 Jun 26.
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation. (2014)
  • Author(s): Imagawa E, Kayserili H, Nishimura G, Nakashima M, Tsurusaki Y, Saitsu H, Ikegawa S, Matsumoto N, Miyake N.
  • Journal Title: Am J Med Genet A. Volume: 164A Pages: 2398-2402
  • DOI: 10.1002/ajmg.a.36648. Epub 2014 Jun 16.
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3. (2014)
  • Author(s): Nakashima M, Kashii H, Murakami Y, Kato M, Tsurusaki Y, Miyake N, Kubota M, Kinoshita T, Saitsu H, Matsumoto N.
  • Journal Title: Neurogenetics. Volume: 15 Pages: 193-200
  • DOI: 10.1007/s10048-014-0408-y. Epub 2014 Jun 8.
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Early onset epileptic encephalopathy caused by de novo SCN8A mutations. (2014)
  • Author(s): Ohba C, Kato M, Takahashi S, Lerman-Sagie T, Lev D, Terashima H, Kubota M, Kawawaki H, Matsufuji M, Kojima Y, Tateno A, Goldberg-Stern H, Straussberg R, Marom D, Leshinsky-Silver E, Nakashima M, Nishiyama K, Tsurusaki Y, Miyake N, Tanaka F, Matsumoto N, Saitsu H.
  • Journal Title: Epilepsia. Volume: 55 Pages: 994-1000
  • DOI: 10.1111/epi.12668. Epub 2014 Jun 2.
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] De novo SOX11 mutations cause Coffin-Siris syndrome. (2014)
  • Author(s): Tsurusaki Y, Koshimizu E, Ohashi H, Phadke S, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K, Kodera H, Miyatake S, Nakashima M, Saitsu H, Ogata K, Ikegawa S, Miyake N, Matsumoto N.
  • Journal Title: Nat Commun. Volume: 5 Pages: 4011
  • DOI: 10.1038/ncomms5011.
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy. (2014)
  • Author(s): Miyatake S, Koshimizu E, Hayashi YK, Miya K, Shiina M, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ogata K, Nishino I, Matsumoto N.
  • Journal Title: Neuromuscul Disord. Volume: 24 Pages: 642-647
  • DOI: 10.1016/j.nmd.2014.04.002. Epub 2014 Apr 24.
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies. (2014)
  • Author(s): Miyatake S, Osaka H, Shiina M, Sasaki M, Takanashi J, Haginoya K, Wada T, Morimoto M, Ando N, Ikuta Y, Nakashima M, Tsurusaki Y, Miyake N, Ogata K, Matsumoto N, Saitsu H.
  • Journal Title: Neurology. Volume: 82 Pages: 2230-2237
  • DOI: 10.1212/WNL.0000000000000535. Epub 2014 May 21.
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] PIGA mutations cause early-onset epileptic encephalopathies and distinctive features. (2014)
  • Author(s): Kato M, Saitsu H, Murakami Y, Kikuchi K, Watanabe S, Iai M, Miya K, Matsuura R, Takayama R, Ohba C, Nakashima M, Tsurusaki Y, Miyake N, Hamano S, Osaka H, Hayasaka K, Kinoshita T, Matsumoto N.
  • Journal Title: Neurology. Volume: 82 Pages: 1587-1596
  • DOI: 10.1212/WNL.0000000000000389. Epub 2014 Apr 4.
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain. (2014)
  • Author(s): Ohba C, Nabatame S, Iijima Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, Ozono K, Saitsu H, Matsumoto N.
  • Journal Title: J Hum Genet. Volume: 59 Pages: 292-295
  • DOI: 10.1038/jhg.2014.18. Epub 2014 Mar 13.
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma. (2014)
  • Author(s): Fujita A, Ochi N, Fujimaki H, Muramatsu H, Takahashi Y, Natsume J, Kojima S, Nakashima M, Tsurusaki Y, Saitsu H, Matsumoto N, Miyake N.
  • Journal Title: Am J Med Genet A. Volume: 164A Pages: 998-1002
  • DOI: 10.1002/ajmg.a.36369. Epub 2014 Jan 23.
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay. (2014)
  • Author(s): Fukai R, Hiraki Y, Nishimura G, Nakashima M, Tsurusaki Y, Saitsu H, Matsumoto N, Miyake N.
  • Journal Title: Am J Med Genet A. Volume: 164A Pages: 1021-1028
  • DOI: 10.1002/ajmg.a.36377. Epub 2014 Jan 23.
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2. (2014)
  • Author(s): Nakajima J, Eminoglu TF, Vatansever G, Nakashima M, Tsurusaki Y, Saitsu H, Kawashima H, Matsumoto N, Miyake N.
  • Journal Title: J Hum Genet. Volume: 59 Pages: 229-232
  • DOI: 10.1038/jhg.2013.143. Epub 2014 Jan 16.
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels. (2014)
  • Author(s): Nakamura K, Osaka H, Murakami Y, Anzai R, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Kinoshita T, Matsumoto N, Saitsu H.
  • Journal Title: Epilepsia. Volume: 55 Pages: 13-17
  • DOI: 10.1111/epi.12508. Epub 2014 Jan 13.
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Aortic aneurysm and craniosynostosis in a family with Cantu syndrome. (2014)
  • Author(s): Hiraki Y, Miyatake S, Hayashidani M, Nishimura Y, Matsuura H, Kamada M, Kawagoe T, Yunoki K, Okamoto N, Yofune H, Nakashima M, Tsurusaki Y, Satisu H, Murakami A, Miyake N, Nishimura G, Matsumoto N.
  • Journal Title: Am J Med Genet A. Volume: 164A Pages: 231-236
  • DOI: 10.1002/ajmg.a.36228. Epub 2013 Nov 25.
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy. (2014)
  • Author(s): Ohba C, Okamoto N, Murakami Y, Suzuki Y, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, Kinoshita T, Matsumoto N, Saitsu H.
  • Journal Title: Neurogenetics. Volume: 15 Pages: 85-92
  • DOI: 10.1007/s10048-013-0384-7. Epub 2013 Nov 20.
  • Peer Reviewed / Acknowledgement Compliant
• [Presentation] 全エクソーム解析による先天性異常症候群コフィン- サイリス症候群の新規責任遺伝子SOX11の同定 (2014)
  • Author(s): 鶴崎 美徳、大橋 博文、岡本 伸彦、輿水 江里子、中島 光子、才津 浩智、三宅 紀子、松本 直通
  • Organizer: 第59回日本人類遺伝学会・第21回日本遺伝子診療学会 合同大会
  • Place of Presentation: タワーホール船堀 (東京都江戸川区)
  • Year and Date: 2014-11-19 – 2014-11-22
• [Presentation] 全エキソーム解析で片親性イソダイソミーに起因するホモ接合性変異が同定できた巨大軸索ニューロパチー症例 (2014)
  • Author(s): 宮武 聡子、多田 弘子、守屋 聡、高梨 潤一、平野 嘉子、林 雅晴、大矢 寧、中島 光子、鶴崎 美徳、三宅 紀子、松本 直通、才津 浩智
  • Organizer: 第59回日本人類遺伝学会・第21回日本遺伝子診療学会 合同大会
  • Place of Presentation: タワーホール船堀 (東京都江戸川区)
  • Year and Date: 2014-11-19 – 2014-11-22
• [Presentation] TUBB4A 変異が引き起こす白質形成不全症の表現型の検討 (2014)
  • Author(s): 才津 浩智、宮武 聡子、小坂 仁、椎名 政昭、佐々木 征行、高梨 潤一、萩野谷 和裕、和田 敬仁、森本 昌史、安藤 直樹、生田 陽二、中島 光子、鶴崎 美徳、三宅 紀子、緒方 一博、松本 直通
  • Organizer: 第59回日本人類遺伝学会・第21回日本遺伝子診療学会 合同大会
  • Place of Presentation: タワーホール船堀 (東京都江戸川区)
  • Year and Date: 2014-11-19 – 2014-11-22
• [Presentation] SCN8A のde novo 変異が原因となる乳児期早期発症の難治性てんかんについての検討 (2014)
  • Author(s): 大場 ちひろ、加藤 光広、高橋 悟、寺嶋 宙、久保田 雅也、川脇 壽、松藤 まゆみ、小島 泰子、舘野 昭彦、中島 光子、西山 精視、鶴崎 美徳、三宅 紀子、田中 章景、才津 浩智、松本 直通
  • Organizer: 第59回日本人類遺伝学会・第21回日本遺伝子診療学会 合同大会
  • Place of Presentation: タワーホール船堀 (東京都江戸川区)
  • Year and Date: 2014-11-19 – 2014-11-22
• [Presentation] HOXA13 変異を認めた重症型Hand-foot-genital syndrome の1 症例 (2014)
  • Author(s): 今川 英里、Hulya Kayserili、西村 玄、中島 光子、鶴崎 美徳、才津 浩智、池川 志郎、松本 直通、三宅 紀子
  • Organizer: 第59回日本人類遺伝学会・第21回日本遺伝子診療学会 合同大会
  • Place of Presentation: タワーホール船堀 (東京都江戸川区)
  • Year and Date: 2014-11-19 – 2014-11-22
• [Presentation] WTX 遺伝子変異を認めたOsteopathia striata with cranial sclerosis に肝芽腫を合併した女児の1 例 (2014)
  • Author(s): 藤田 京志、越知 信彦、藤巻 英彦、村松 秀城、高橋 義行、夏目 淳、小島 勢二、中島 光子、鶴崎 美徳、才津 浩智、松本 直通、三宅 紀子
  • Organizer: 第59回日本人類遺伝学会・第21回日本遺伝子診療学会 合同大会
  • Place of Presentation: タワーホール船堀 (東京都江戸川区)
  • Year and Date: 2014-11-19 – 2014-11-22
• [Presentation] 先天性糖鎖合成異常症の新規原因遺伝子COG2 の同定 (2014)
  • Author(s): 小寺 啓文、安藤 直樹、湯浅 勲、和田 芳直、鶴崎 美徳、中島 光子、三宅 紀子、齋藤 伸治、松本 直通、才津 浩智
  • Organizer: 第59回日本人類遺伝学会・第21回日本遺伝子診療学会 合同大会
  • Place of Presentation: タワーホール船堀 (東京都江戸川区)
  • Year and Date: 2014-11-19 – 2014-11-22
• [Presentation] 次世代シーケンサーを用いた超低頻度モザイク変異の検出：ネマリンミオパチーの一例 (2014)
  • Author(s): 輿水 江里子、宮武 聡子、林 由起子、宮 一志、椎名 政昭、中島 光子、鶴崎 美徳、三宅 紀子、才津 浩智、緒方 一博、西野 一三、松本 直通
  • Organizer: 第59回日本人類遺伝学会・第21回日本遺伝子診療学会 合同大会
  • Place of Presentation: タワーホール船堀 (東京都江戸川区)
  • Year and Date: 2014-11-19 – 2014-11-22
• [Presentation] SKI 遺伝子変異が同定されたShprinzen-Goldberg 症候群の男児 (2014)
  • Author(s): 加藤 芙弥子、松本 直通、鶴崎 美徳、小崎 理華、中島 信一、深見 真紀、緒方 勤
  • Organizer: 第59回日本人類遺伝学会・第21回日本遺伝子診療学会 合同大会
  • Place of Presentation: タワーホール船堀 (東京都江戸川区)
  • Year and Date: 2014-11-19 – 2014-11-22
• [Presentation] CHARGE 症候群様の表現形を呈したEP300 スプライス変異を有する女児例 (2014)
  • Author(s): 水野 誠司、鶴崎 美徳、村松 友佳子、飯尾 賢治、新美 教弘、丸山 幸一、松本 直通
  • Organizer: 第59回日本人類遺伝学会・第21回日本遺伝子診療学会 合同大会
  • Place of Presentation: タワーホール船堀 (東京都江戸川区)
  • Year and Date: 2014-11-19 – 2014-11-22
• [Presentation] Wieacker-Wolff 症候群の遺伝カウンセリング (2014)
  • Author(s): 三島 祐子、鶴崎 美徳、松本 直通、岡本 伸彦
  • Organizer: 第59回日本人類遺伝学会・第21回日本遺伝子診療学会 合同大会
  • Place of Presentation: タワーホール船堀 (東京都江戸川区)
  • Year and Date: 2014-11-19 – 2014-11-22
• [Presentation] Coffin-Siris syndrome is a BAF complex disorder (2014)
  • Author(s): Y. Tsurusaki, M. Nakashima, H. Saitsu, N. Miyake, N. Matsumoto
  • Organizer: American Society of Human Genetics 2014 Meeting
  • Place of Presentation: San Diego (USA)
  • Year and Date: 2014-10-18 – 2014-10-22
• [Presentation] Early Onset Epileptic Encephalopathy Caused by de novo SCN8A Mutations (2014)
  • Author(s): H. Saitsu, C. Ohaba, M. Kato, S. Takahashi, T. Lerman-Sagie, D. Lev, H. Terashima, M. Kubota, H. Kawawaki, M. Matsufuji, Y. Kojima, A. Tateno, H. Goldberg-Stern, R. Straussberg, D. Marom, E. Leshinsky-Silver, M. Nakashima, K. Nishiyama, Y. Tsurusaki, N. Miyake, F. Tanaka, N. Matsumoto
  • Organizer: American Society of Human Genetics 2014 Meeting
  • Place of Presentation: San Diego (USA)
  • Year and Date: 2014-10-18 – 2014-10-22
• [Presentation] A CHARGE syndrome-like phenotype in a patient with EP300 splicing (2014)
  • Author(s): S. Mizuno, Y. Tsurusaki, Y. Muramatsu, K. Maruyama, N. Niimi, K. Iio, N. Matsumoto
  • Organizer: American Society of Human Genetics 2014 Meeting
  • Place of Presentation: San Diego (USA)
  • Year and Date: 2014-10-18 – 2014-10-22
• [Presentation] Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies (2014)
  • Author(s): S. Miyatake, H. Osaka, M. Shiina, M. Sasaki, J. Takanashi, K. Haginoya, T. Wada, M. Morimoto, N. Ando, Y. Ikuta, M. Nakashima, Y. Tsurusaki, N. Miyake, N. Matsumoto, H. Saitsu
  • Organizer: American Society of Human Genetics 2014 Meeting
  • Place of Presentation: San Diego (USA)
  • Year and Date: 2014-10-18 – 2014-10-22
• [Presentation] Mutations in COG2 Encoding a Subunit of the Conserved Oligomeric Golgi Complex Cause a Congenital Disorder of Glycosylation (2014)
  • Author(s): H. Kodera, N. Ando, I. Yuasa, Y. Wada, Y. Tsurusaki, M. Nakashima, N. Miyake, S. Saitoh, N. Matsumoto, H. Saitsu
  • Organizer: American Society of Human Genetics 2014 Meeting
  • Place of Presentation: San Diego (USA)
  • Year and Date: 2014-10-18 – 2014-10-22
• [Presentation] Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3 (2014)
  • Author(s): M. Nakashima, H. Kashii, Y. Murakami, M. Kato, Y. Tsurusaki, N. Miyake, M. Kubota, T. Kinoshita, H. Saitsu, N. Matsumoto
  • Organizer: American Society of Human Genetics 2014 Meeting
  • Place of Presentation: San Diego (USA)
  • Year and Date: 2014-10-18 – 2014-10-22
• [Presentation] A hemizygous GYG2 mutation in Japanese siblings showing Leigh syndrome without marked elevation of lactate and pyruvate (2014)
  • Author(s): E. Imagawa, H. Osaka, A. Yamashita, M. Shiina, E. Takahashi, H. Sugie, M. Nakashima, Y. Tsurusaki, H. Saitsu, K. Ogata, N. Matsumoto, N. Miyake
  • Organizer: American Society of Human Genetics 2014 Meeting
  • Place of Presentation: San Diego (USA)
  • Year and Date: 2014-10-18 – 2014-10-22
• [Presentation] Deep sequencing detects very low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy (2014)
  • Author(s): E. Koshimizu, S. Miyatake, Y. K. Hayashi, K. Miya, M. Shiina, M. Nakashima, Y. Tsurusaki, N. Miyake, H. Saitsu, K. Ogata, I. Nishino, N. Matsumoto
  • Organizer: American Society of Human Genetics 2014 Meeting
  • Place of Presentation: San Diego (USA)
  • Year and Date: 2014-10-18 – 2014-10-22
• [Presentation] De novo SOX11 mutations cause Coffin-Siris syndrome (2014)
  • Author(s): N. Matsumoto, Y. Tsurusaki, E. Koshimizu, H. Ohashi, S. Phadke, N. Miyake
  • Organizer: American Society of Human Genetics 2014 Meeting
  • Place of Presentation: San Diego (USA)
  • Year and Date: 2014-10-18 – 2014-10-22
• [Book] 次世代シークエンス解析スタンダード (2014)
  • Author(s): 鶴﨑美徳
  • Total Pages: 404
  • Publisher: 羊土社