Identification of novel disease genes utilizing next generation sequencer

2012 Fiscal Year Final Research Report

• Project/Area Number: 23689052
• Research Category: Grant-in-Aid for Young Scientists (A)
• Allocation Type: Single-year Grants
• Research Field: Pediatrics
• Research Institution: Yokohama City University
• Principal Investigator: MIYAKE Noriko 横浜市立大学, 医学部, 准教授 (40523494)
• Co-Investigator(Renkei-kenkyūsha): KATO Mitsuhiro 山形大学, 医学部, 講師 (10292434) ; OKAMOTO Nobuhiko 大阪府立母子総合医療センター, 企画調査部, 参事 (30416242)
• Project Period (FY): 2011 – 2012
• Keywords: 遺伝 / 先天異常学

Research Abstract

Our aim is to identify the novel disease genes responsible for the congenital diseases. Based on the genetic evidence, we intend to clarify the whole picture of the etiology and contribute to develop the diagnostic tools, prevention and treatment. In this project, utilizing the emerging technology of next generation sequencer, we successfully identified total number of eight novel responsible genes for Coffin-Siris syndrome, Mitochondrial complex III deficiency and autosomal recessive brachyolmia.

Research Products

• [Journal Article] Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation (2013)
  • Author(s): Miyake N^<#>, Yano S^<#> (# denotes equal contribution), Sakai C, Hatakeyama H, Shiina M, Watanabe Y, Bartley J, Abdenur JE, Wang RY, Chang R, Tsurusaki Y, Doi H, Saitsu H, Ogata K, Goto Y, *Matsumoto N
  • Journal Title: Hum Mut Volume: 34(3):446-452
  • DOI: doi: 10.1002/humu.22257
  • Peer Reviewed
• [Journal Article] The diagnostic utility of exome sequencing in Joubert syndrome related disorders (2013)
  • Author(s): Tsurusaki Y, Kobayashi Y, Hisano M, Ito S, Doi H, Nakashima M, Saitsu H, Matsumoto N, Miyake N
  • Journal Title: J Hum Genet Volume: 58(2):113-115
  • DOI: doi:10.1038/jhg.2012.117
  • Peer Reviewed
• [Journal Article] Exome sequencing identifies an OFD1 mutation in a family of X-linked lethal congenital malformation syndrome: delineation of male Oral-facial-digital syndrome type 1 (2013)
  • Author(s): Tsurusaki Y^<#>, *Kosho T^<#> (# denotes equal contribution), Hatasaki K, Narumi Y, Wakui K, Fukushima Y, Doi H, Saitsu H, Miyake N, *Matsumoto N (*: co-correspondence)
  • Journal Title: Clin Genet Volume: 83(2):135-144
  • DOI: doi:10.1111/j.1399-0004.2012.01885.x
  • Peer Reviewed
• [Journal Article] Phenotype spectrum of COL4A1 mutations : porencephaly to schizencephaly (2013)
  • Author(s): Yoneda Y, Haginoya K, Kato M, Osaka H, Yokochi K, Arai H, Kakita A, Yamamoto T, Otsuki Y, Shimizu S, Wada T, Koyama N, Mino Y, Kondo N, Takahashi S, Hirabayashi S, Takanashi J, Okumura A, Kumagai T, Hirai S, Nabetani M, Saitoh S, Hattori F, Yamazaki A, Su
  • Journal Title: Ann Neurol Volume: 73(1):48-57
  • DOI: doi:10.1002/ana.23736
  • Peer Reviewed
• [Journal Article] Essential role of the IRF8-KLF4 transcription factor cascade in murine monocyte differentiation (2012)
  • Author(s): Kurotaki D, Osato N, Nishiyama A, Yamamoto M, Ban T, Sato H, Nakabayashi J, Umehara M, Miyake N, Matsumoto N, Nakazawa M, Ozato K, Tamura T
  • Journal Title: Blood Volume: 121(10):1839-1849
  • DOI: doi:10.1182/blood-2012-06-437863
  • Peer Reviewed
• [Journal Article] Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome (2012)
  • Author(s): Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S
  • Journal Title: Nat Genet Volume: 44(4):376-378
  • DOI: doi:10.1038/ng.2219
  • Peer Reviewed
• [Journal Article] KDM6A point mutations cause Kabuki syndrome (2012)
  • Author(s): Miyake N, Mizuno S, Okamoto N, Ohashi H, Shiina M, Ogata K, Tsurusaki Y, Nakashima M, Saitsu H, *Matsumoto N (*: co-corresponding)
  • Journal Title: Hum Mut Volume: 34(1):108-110
  • DOI: doi:10.1002/humu.22229
  • Peer Reviewed
• [Journal Article] PAPSS2 mutations cause autosomal recessive brachyolmia (2012)
  • Author(s): Miyake N^<#>, Elcioglu NH^<#> (# denotes equal contribution), Iida A, Isguven P, Dai J, Murakami N, Takamura K, Cho T-J, Kim O-H, Nagai T, Ohashi H, Nishimura G, Matsumoto N, Ikegawa S
  • Journal Title: J Med Genet Volume: 49(8): 533-538
  • DOI: doi:10.1136/jmedgenet-2012-101039
  • Peer Reviewed
• [Journal Article] A novel SACS mutation in a Japanese family with atypical phenotype of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) (2012)
  • Author(s): Miyatake S, Miyake N, Doi H, Ogata K, Kawai M, Matsumoto N
  • Journal Title: Intern Med Volume: 51: 2221-2226
  • URL: https://www.jstage.jst.go.jp/article/internalmedicine/51/16/51_51.7374/_article
  • Peer Reviewed
• [Journal Article] Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing (2012)
  • Author(s): Sakai H, Suzuki S, Mizuguchi T, Imoto K, Doi H, Kikuchi M, Tsurusaki T, Saitsu H, Miyake N, Masuda M, Matsumoto N
  • Journal Title: Hum Genet Volume: 131: 591-599
  • DOI: doi:10.1007/s00439-011-1105-7
  • Peer Reviewed
• [Journal Article] Homozygous c.14576G>A Variant of RNF213 Predicts Early-Onset and Severe Form of Moyamoya Disease (2012)
  • Author(s): Miyatake S, Miyake N, Touho H, Nishimura-Tadaki A, Kondo Y, Okada I, Tsurusaki Y, Doi H, Sakai H, Saitsu H, Yamamoto T, Higurashi M, Kawahara N, Kawauchi H, Nagasaka K, Okamoto N, Mori T, Koyano S, Kuroiwa Y, Taguri M, Morita S, Matsubara Y, Kure S, Ma
  • Journal Title: Neurology Volume: 78: 803-810
  • DOI: doi:10.1212/WNL.0b013e318249f71f
  • Peer Reviewed
• [Journal Article] De novo and inherited mutations in the gene encoding a type IV collagen α2 chain (COL4A2) cause porencephaly (2012)
  • Author(s): Yoneda Y, Haginoya K, Arai H, Tsurusaki Y, Doi H, Miyake N, Osaka H, Kato M, Matsumoto N, Saitsu H
  • Journal Title: Am J Hum Genet Volume: 90 (1):86-90
  • DOI: doi:10.1016/j.ajhg.2011.11.016
  • Peer Reviewed
• [Journal Article] Whole exome sequenwcing identifies KCNQ2 mutations in Ohtahara syndrome. (2012)
  • Author(s): Saitsu H, Kato M, Koide A, Goto T, Fujita T, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N
  • Journal Title: Ann Neurol Volume: 72(2): 298-300
  • Peer Reviewed
• [Journal Article] CASK aberrations in males with Ohtahara syndrome and cerebellar hypoplasia (2012)
  • Author(s): Saitsu H, Kato M, Osaka H, Moriyama N, Horita H, Nishiyama K, Yoneda Y, Kondo Y, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N
  • Journal Title: Epilepsia Volume: 53(8): 1441-1449
  • DOI: doi:10.1111/j.1528-1167.2012.03548.x
  • Peer Reviewed
• [Journal Article] CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia (2012)
  • Author(s): Saitsu H, Kato M, Osaka H, Moriyama N, Horita H, Nishiyama K, Yoneda Y, Kondo Y, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N
  • Journal Title: Epilepsia Volume: 53(8):1441-1449
  • DOI: doi:10.1111/j.1528-1167.2012.03548.x
  • Peer Reviewed
• [Journal Article] A novel homozygous mutation of DARS2 may cause a severe LBSL variant (2011)
  • Author(s): Miyake N, Yamashita S, Kurosawa K, Miyatake S, Tsurusaki Y, Doi H, Saitsu H, Matsumoto N
  • Journal Title: Clin Genet Volume: 80(3):293-296
  • DOI: doi:10.1111/j.1399-0004.2011.01644.x
  • Peer Reviewed
• [Journal Article] Expansion of the CHN1 strabismus phenotype (2011)
  • Author(s): Miyake N, Demer JL, Shaaban S, Andrews C, Chan WM, Christiansen SP, Hunter DG, Engle EC
  • Journal Title: Invest Ophthalmol Vis Sci Volume: 52(9):6321-6328
  • DOI: doi:10.1167/iovs.11-7950
  • Peer Reviewed
• [Journal Article] Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing (2011)
  • Author(s): Tsurusaki Y, Osaka H, Hamanoue H, Shimbo H, Tsuji M, Doi H, Saitsu H, Matsumoto N, Miyake N*
  • Journal Title: J Med Genet Volume: 48(9):606-9
  • DOI: doi:10.1136/jmg.2010.083535
  • Peer Reviewed
• [Journal Article] A response to: loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, dermatan sulfate-deficient Adducted Thumb-Clubfoot Syndrome. Which name is appropriate, Adducted Thumb-Clubfoot Synd (2011)
  • Author(s): Kosho T, Miyake N, Mizumoto S, Hatamochi A, Fukushima Y, Yamada S, Sugahara K, Matsumoto N
  • Journal Title: Hum Mutat Volume: 32(12):1507-9
  • Peer Reviewed
• [Journal Article] A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder (2011)
  • Author(s): Abdel-Salam GM, Miyake N, Eid MM, Abdel-Hamid MS, Hassan NA, Eid OM, Effat LK, El-Badry TH, El-Kamah GY, El-Darouti M, Matsumoto N
  • Journal Title: Am J Med Genet A Volume: 155A(11):2885-2896
  • DOI: doi:10.1002/ajmg.a.34299
  • Peer Reviewed
• [Journal Article] Two novel CHN1 mutations in 2 families with Duane retraction syndrome (2011)
  • Author(s): Chan WM^<#>, Miyake N^<#> (# denotes equal contribution), Zhu-Tam L, Andrews C, Engle EC
  • Journal Title: Arch Ophthalmol Volume: 129(5):649-52
  • DOI: doi:10.1001/archophthalmol.2011.84
  • Peer Reviewed
• [Journal Article] A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia (2011)
  • Author(s): Dai J, Kim OH, Cho TJ, Miyake N, Song HR, Karasugi T, Sakazume S, Ikema M, Matsui Y, Nagai T, Matsumoto N, Ohashi H, Kamatani N, Nishimura G, Furuichi T, Takahashi A, Ikegawa S
  • Journal Title: J Hum Genet Volume: 56(5):398-400
  • DOI: doi:10.1038/jhg.2011.28
  • Peer Reviewed
• [Journal Article] Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive review of 20 reported patients (2011)
  • Author(s): Shimizu K, Okamoto N, Miyake N, Taira K, Sato Y, Matsuda K, Akimaru N, Ohashi H, Wakui K, Fukushima Y, Matsumoto N, Kosho T
  • Journal Title: Am J Med Genet A. Volume: 155A(8):1949-1958
  • Peer Reviewed
• [Journal Article] Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy (2011)
  • Author(s): Saitsu H, Osaka H, Sasaki M, Takanashi J, Hamada K, Yamashita A, Shibayama H, Shiina M, Kondo Y, Nishiyama K, Tsurusaki Y, Miyake N, Doi H, Ogata K, Inoue K, Matsumoto N.
  • Journal Title: Am J Hum Genet Volume: 89(5):644-651
  • DOI: doi: 10.1016/j.ajhg.2011.10.003
  • Peer Reviewed
• [Journal Article] Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation (2011)
  • Author(s): Doi H, Yoshida K, Yasuda T, Fukuda M, Fukuda Y, Morita H, Ikeda S, Kato R, Tsurusaki Y, Miyake N, Saitsu H, Sakai H, Miyatake S, Shiina M, Nukina N, Koyano S, Tsuji S, Kuroiwa Y, Matsumoto N
  • Journal Title: Am J Hum Genet Volume: 89(2):320-327
  • DOI: doi: 10.1016/j.ajhg.2011.07.012
  • Peer Reviewed
• [Presentation] X連鎖性を疑われたがミトコンドリア遺伝病であった一難聴家系の解析 (2012)
  • Author(s): 三宅紀子、鶴崎美徳、Desheng Liang、Lingqian Wu、松本直通
  • Organizer: 人類遺伝学会第57回大会・一般口演・臨床遺伝学3
  • Place of Presentation: 日京王プラザホテル(東京)
  • Year and Date: 2012-10-27
• [Presentation] CHST14 mutations in Ehlers-Danlos syndrome (2011)
  • Author(s): Noriko Miyake, Tomoki Kosho, Shuji Mizumoto, Tatsuya Furuichi, Atsushi Hatamochi, Shiro Ikegawa, Shuhei Yamada, Kazuyuki Sugahara, Naomichi Matsumoto
  • Organizer: The 11th East Asia Union of Human Genetics Annual meeting (oral oresentation)
  • Place of Presentation: 幕張メッセ (千葉県)
  • Year and Date: 2011-11-10
• [Presentation] 新型 Ehlers-Danlos 症候群(D4ST1 欠損症)の遺伝学的検索 (2011)
  • Author(s): 三宅紀子、古庄知己、水本秀二、松本直通
  • Organizer: 日本人類遺伝学会第56回大会(一般口演)
  • Place of Presentation: 幕張メッセ (千葉県)
  • Year and Date: 2011-11-10
• [Presentation] Loss-of-function mutations of CHST14 cause a new type of autosomal recessive Ehlers-Danlos syndrome (2011)
  • Author(s): Noriko Miyake, Tomoki Kosho, Shuji Mizumoto, Tatsuya Furuichi, Atsushi Hatamochi, Shiro Ikegawa, Shuhei Yamada, Kazuyuki Sugahara, Naomichi Matsumoto
  • Organizer: Europian Human Genetics Conference 2011 (poster session)
  • Place of Presentation: Amsterdam, The Netherlands
  • Year and Date: 2011-05-30
• [Patent(Industrial Property Rights)] ミトコンドリア複合体 III 欠乏症の確定診断法 (2012)
  • Inventor(s): 松本直通/三宅紀子
  • Industrial Property Rights Holder: 横浜市立大学
  • Industrial Property Number: 2012-180356
  • Filing Date: 2012-08-16
• [Patent(Industrial Property Rights)] コフィン-シリス症候群の検出方法 (2012)
  • Inventor(s): 松本直通/鶴崎美徳/三宅紀子
  • Industrial Property Rights Holder: 横浜市立大学
  • Industrial Property Number: 2012-136
  • Filing Date: 2012-01-04