Identification of disease-causing genes for Coffin-Siris syndrome

• Project/Area Number: 25860915
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Embryonic/Neonatal medicine
• Research Institution: Yokohama City University
• Principal Investigator: TSURUSAKI Yoshinori 横浜市立大学, 医学部, 助教 (70392040)
• Project Period (FY): 2013-04-01 – 2015-03-31
• Project Status: Completed (Fiscal Year 2014)
• Budget Amount: ¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000); Fiscal Year 2014: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000); Fiscal Year 2013: ¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000)
• Keywords: Coffin-Siris 症候群 / 疾患責任遺伝子 / 全エクソーム解析 / コフィン・サイリス症候群 / 先天異常学

Outline of Final Research Achievements

Coffin-Siris syndrome is a congenital disorder characterized by intellectual disability, growth deficiency, microcephaly, coarse facial features, and hypoplastic or absent fifth fingernails and/or toenails. The majority of affected individuals represent sporadic cases. The genetic cause for this syndrome has not been elucidated. We reported that five genes are mutated in CSS, all of which encode subunits of the Brahma-associated factor (BAF) (also known in yeast as the SWI/SNF) ATP-dependent chromatin-remodeling complex: SMARCB1, SMARCA4, SMARCE1, ARID1A, and ARID1B. In addition, we perform whole-exome sequencing in additional CSS patients, identifying de novo SOX11 mutations in two patients with a mild CSS phenotype.

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(2) Issue: 2 Pages: 97-101
  • DOI: 10.1038/jhg.2014.103
  • Peer Reviewed / Open Access
• [Journal Article] Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation (2015)
  • Author(s): 17.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: 87 Issue: 5 Pages: 455-460
  • DOI: 10.1111/cge.12417
  • Peer Reviewed
• [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, Saitus H, Arai H, Matsumoto N.
  • Journal Title: J Hum Genet. Volume: 59 Issue: 12 Pages: 691-3
  • DOI: 10.1038/jhg.2014.95
  • Peer Reviewed
• [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: Journal of Human Genetics Volume: 59 Issue: 12 Pages: 687-690
  • DOI: 10.1038/jhg.2014.91
  • NAID: 40020308684
  • 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 Issue: 12 Pages: 649-54
  • DOI: 10.1038/jhg.2014.88
  • 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（9） Issue: 9 Pages: e108721-e108721
  • DOI: 10.1371/journal.pone.0108721
  • 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: Journal of Human Genetics Volume: 59 Issue: 10 Pages: 589-590
  • DOI: 10.1038/jhg.2014.75
  • Peer Reviewed / Open Access
• [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 Issue: 10 Pages: 581-3
  • DOI: 10.1038/jhg.2014.71
  • 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 Part C Volume: 166c（3） Issue: 3 Pages: 257-261
  • DOI: 10.1002/ajmg.c.31406
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy (2014)
  • Author(s): Miyatake S, Koshimizu E, Tada H, Satoshi Moriya S, Takanashi J, Hirano Y, Hayashi M, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H.
  • Journal Title: Clin Genet Volume: 87（4） Issue: 4 Pages: 395-397
  • DOI: 10.1111/cge.12455
  • Peer Reviewed / Open Access / 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（8） Issue: 8 Pages: 471-474
  • DOI: 10.1038/jhg.2014.51
  • 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 Issue: 9 Pages: 2398-402
  • DOI: 10.1002/ajmg.a.36648
  • 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: Neurogenet Volume: 15（3） Issue: 3 Pages: 193-200
  • DOI: 10.1007/s10048-014-0408-y
  • 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 Issue: 7 Pages: 994-1000
  • DOI: 10.1111/epi.12668
  • Peer Reviewed
• [Journal Article] De novo SOX11 mutations cause Coffin-Siris syndrome (2014)
  • Author(s): Tsurusaki Y, Ohashi H, Phadke S, Koshimizu E, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K-i, Kodera H, Miyatake S, Nakashima N, Saitsu H, Ogata K, Ikegawa S, Miyake N, and Matsumoto N.
  • Journal Title: Nat Commun Volume: 5 Issue: 1 Pages: 4011-4011
  • DOI: 10.1038/ncomms5011
  • Peer Reviewed / Open Access / 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（7） Issue: 7 Pages: 642-647
  • DOI: 10.1016/j.nmd.2014.04.002
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Expanding the phenotypic spectrum of TUBB4A-associated (2014)
  • Author(s): Miyatake S, Osaka H, Shiina M, Sasaki M, Takanashi J, Haginoya K, Wada T,
  • Journal Title: Neurology Volume: 82(24) Issue: 24 Pages: 2230-7
  • DOI: 10.1212/wnl.0000000000000535
  • 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（18） Issue: 18 Pages: 1587-1596
  • DOI: 10.1212/wnl.0000000000000389
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability and, autistic behaviors and epilepsy (2014)
  • Author(s): Nakajima J, Okamoto N, Tohyama J, Kato M, Arai H, Funahashi O, Tsurusakia Y, Nakashima M, Kawashima H, Saitsu H, Matsumoto N, Miyake N.
  • Journal Title: Clin Genet Volume: 87(4) Issue: 4 Pages: 356-361
  • DOI: 10.1111/cge.12394
  • 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（5） Issue: 5 Pages: 292-295
  • DOI: 10.1038/jhg.2014.18
  • 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 Issue: 4 Pages: 998-1002
  • DOI: 10.1002/ajmg.a.36369
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmentaldelay. (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 Issue: 4 Pages: 1021-8
  • DOI: 10.1002/ajmg.a.36377
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] A novel homozygous YARS2 mutation causessevere 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 Issue: 4 Pages: 229-32
  • DOI: 10.1038/jhg.2013.143
  • 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. and Saitsu, H
  • Journal Title: Epilepsia Volume: 55 Issue: 2 Pages: 13-17
  • DOI: 10.1111/epi.12508
  • Peer Reviewed
• [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 Part A Volume: 164 Issue: 1 Pages: 231-236
  • DOI: 10.1002/ajmg.a.36228
  • Peer Reviewed
• [Journal Article] PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy (2014)
  • Author(s): Ohba C, Okamoto N, Murakami Y, Kawato K, Suzuki Y, Ikeda T, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, Kinoshita T, Matsumoto N, Saitsu H .
  • Journal Title: Neurogenet Volume: 15（2） Issue: 2 Pages: 85-92
  • DOI: 10.1007/s10048-013-0384-7
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot. (2014)
  • Author(s): Nakamura K, Jinnou H, Yokochi K, Okanishi T, Enoki H, Ohki S, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake M, Matsumoto N, Saitsu H*.
  • Journal Title: Brain Dev Volume: 36 Issue: 3 Pages: 272-273
  • DOI: 10.1016/j.braindev.2013.03.007
  • Peer Reviewed
• [Journal Article] A hemizygous GYG2 mutation and Leigh syndrome: a possible link? (2014)
  • Author(s): Imagawa E, Osaka H, Yamashita A, Shiina M, Takahashi E, Sugie H, Nakashima M, Tsurusaki Y, Saitsu H, Ogata K, Matsumoto N, Miyake N.
  • Journal Title: Hum Genet. Volume: 133(2 Issue: 2 Pages: 225-34
  • DOI: 10.1007/s00439-013-1372-6
  • Peer Reviewed / Open Access
• [Journal Article] De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy (2013)
  • Author(s): Kodera H, Nakamura K, Osaka H, Maegaki Y, Haginoya K, Mizumoto S, Kato M, Okamoto N, Iai M, Kondo Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, Sugahara K, Yuasa I, Wada Y, Matsumoto N, Saitsu H.
  • Journal Title: Hum Mutat Volume: 34 Issue: 12 Pages: 1708-1714
  • DOI: 10.1002/humu.22446
  • Peer Reviewed
• [Journal Article] Diagnostic utility of whole exome sequencing in cerebellar atrophy in childhood. (2013)
  • Author(s): Ohba C, Osaka H, Iai M, Yamashita S, Suzuki S, Aida N, Doi H, Tomita-Katsumoto A, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, *Matsumoto N, *Saitsu H (*: co-correspondence).
  • Journal Title: Neurogenet Volume: 14 Issue: 3-4 Pages: 225-232
  • DOI: 10.1007/s10048-013-0375-8
  • Peer Reviewed
• [Journal Article] A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia syndrome. (2013)
  • Author(s): Nakajima J, Eminoglu TF, Vatansever G, Nakashima M, Tsurusakia Y, Saitsu H, Kawashima H, *Matsumoto N, *Miyake N (*: co-correspondence).
  • Journal Title: J Hum Genet Volume: 58 Issue: 12 Pages: 822-824
  • DOI: 10.1038/jhg.2013.104
  • Peer Reviewed
• [Journal Article] Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder. (2013)
  • Author(s): Koshimizu E#, Miyatake S# (# denotes equal contribution), Okamoto N, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N.
  • Journal Title: Plos One Volume: 8 Issue: 9 Pages: e74167-e74167
  • DOI: 10.1371/journal.pone.0074167
  • Peer Reviewed
• [Journal Article] De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy. (2013)
  • Author(s): Nakamura, K., et al.,
  • Journal Title: Am. J. Hum. Genet. Volume: 93 Issue: 3 Pages: 496-505
  • DOI: 10.1016/j.ajhg.2013.07.014
  • Peer Reviewed
• [Journal Article] Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. (2013)
  • Author(s): Nakamura K, et al., Miyake N, et al., *Matsumoto N, *Saitsu H (* denotes co-corresponding).
  • Journal Title: Neurology Volume: 81 Issue: 11 Pages: 992-998
  • DOI: 10.1212/wnl.0b013e3182a43e57
  • Peer Reviewed
• [Journal Article] Co-occurrence of 22q11 deletion syndrome and HDR Syndrome. (2013)
  • Author(s): Fukai R, Ochi N, Murakamia A, Nakashima M, Tsurusakia Y, Saitsu H, *Matsumoto N, *Miyake N.
  • Journal Title: Am J Med Genet Part A Volume: 161 Issue: 10 Pages: 2576-2581
  • DOI: 10.1002/ajmg.a.36083
  • Peer Reviewed
• [Journal Article] MLL2 and KDM6A mutations in patients with Kabuki syndrome. (2013)
  • Author(s): Miyake N*, Koshimizu E, Okamoto N, Mizuno S, Ogata T,at all
  • Journal Title: Am J Med Genet A Volume: 161 Issue: 9 Pages: 2234-2243
  • DOI: 10.1002/ajmg.a.36072
  • Peer Reviewed
• [Journal Article] Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia (2013)
  • Author(s): Doi H, Ohba C, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Kawamoto Y, Yoshida T, Koyano S, Suzuki Y, Kuroiwa Y, Tanaka F, Matsumoto N.
  • Journal Title: Intern Med. Volume: 52 Pages: 1629-33
  • NAID: 130003365707
  • Peer Reviewed
• [Journal Article] A Unique Case of de novo 5q33.3q34 Triplication with Uniparental Isodisomy of 5q34qter. (2013)
  • Author(s): Fujita A, Suzumura H, Nakashima M, Tsurusaki Y, Saitsu H, Harada N, *Matsumoto N,*Miyake N.
  • Journal Title: Am J Med Genet Part A Volume: 161 Issue: 8 Pages: 1904-1909
  • DOI: 10.1002/ajmg.a.36026
  • Peer Reviewed
• [Journal Article] Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy (2013)
  • Author(s): Ravenscroft G, Ogata K, Shiina M, Matsumoto N, Laing NG et al.
  • Journal Title: Am J Hum Genet Volume: 93 Issue: 1 Pages: 6-18
  • DOI: 10.1016/j.ajhg.2013.05.004
  • Peer Reviewed
• [Journal Article] Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition Microphthalmia with Limb Anomalies-like. (2013)
  • Author(s): Kondo Y, Koshimizu E, Megarbane A, Hamanoue H, Okada I, Nishiyama K, Kodera H, Miyatake S, Tsurusaki Y, Nakashima M, Doi H, Miyake N, Saitsu H, *Matsumoto N.
  • Journal Title: Am J Med Genet Part A Volume: 161A Issue: 7 Pages: 1543-1546
  • DOI: 10.1002/ajmg.a.35983
  • Peer Reviewed
• [Journal Article] Mutations in B3GALT6 which Encodes a Glycosaminoglycan Linker Region Enzyme Cause a Spectrum of Skeletal and Connective Tissue Disorders (2013)
  • Author(s): Masahiro Nakajima, Shuji Mizumoto et al.
  • Journal Title: American Journal of Human Genetics Volume: in press Issue: 6 Pages: 927-934
  • DOI: 10.1016/j.ajhg.2013.04.003
  • Peer Reviewed
• [Journal Article] Target capture sequencing for detection of mutations and copy number changes causing early-onset epileptic encephalopathy. (2013)
  • Author(s): Kodera H, Kato M, Nord AS, Walsh T, Lee M, Yamanaka G, Tohyama J, Nakamura K, Nakagawa E, Ikeda T, Ben-Zeev B, Lev D, Lerman-Sagie T, Straussberg R, Tanabe S, Ueda K, Amamoto M, Ohta S, Nododa Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, King M-C, Matsumoto N, *Saitsu H.
  • Journal Title: Epilepsia Volume: 54 Issue: 7 Pages: 1262-1269
  • DOI: 10.1111/epi.12203
  • Peer Reviewed
• [Journal Article] Clinical correlations of mutations affecting six components of the SWI/SNF complex : Detailed description of 21 patients and a review of the literature (2013)
  • Author(s): Kosho T, Okamoto N, Ohashi H, Yamagata T, Matsumoto N (27人中11番目)
  • Journal Title: Am J Med Genet A Volume: 161 Issue: 6 Pages: 1221-1237
  • DOI: 10.1002/ajmg.a.35933
  • Peer Reviewed
• [Journal Article] Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation (2013)
  • Author(s): Kato M, …Saitsu H.
  • Journal Title: Epilepsia Volume: in press Issue: 7 Pages: 1282-7
  • DOI: 10.1111/epi.12200
  • Peer Reviewed
• [Journal Article] Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia (2013)
  • Author(s): Iida A, Okamoto N, Miyake N, Nishimura G, Minami S, Sugimoto T, Nakashima M, Tsurusaki Y, Saitsu H, Shiina M, Ogata K, Watanabe S, Ohashi H, Matsumoto N, Ikegawa S
  • Journal Title: J Hum Genet Volume: 58 Issue: 6 Pages: 391-394
  • DOI: 10.1038/jhg.2013.25
  • NAID: 10031184228
  • Peer Reviewed
• [Journal Article] De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood (2013)
  • Author(s): Saitsu H, Nishimura T, Muramatsu K, Kodera H, Kumada S, Sugai K, Kasai-Yoshida E, Sawaura N, Nishida H, Hoshino A, Ryujin F, Yoshioka S, Nishiyama K, Kondo Y, Tsurusaki Y, Nakashima M, Miyake N, Arakawa H, Kato M, Mizushima, Matsumoto N
  • Journal Title: Nat Genet Volume: 45 Issue: 4 Pages: 445-449
  • DOI: 10.1038/ng.2562
  • Peer Reviewed
• [Journal Article] A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy (2013)
  • Author(s): Higashiyama Y, Doi H, Wakabayashi M, Tsurusaki Y, Miyake N, Saitsu H, Ohba C, Fukai R, Miyatake S, Joki H, Koyano S, Suzuki Y, Tanaka F, Kuroiwa Y, Matsumoto N
  • Journal Title: Mov Disord Volume: 28 Issue: 4 Pages: 552-553
  • DOI: 10.1002/mds.25296
  • Peer Reviewed
• [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
• [Presentation] 次世代シークエンサーを用いた反復性流産の疾患責任遺伝子の同定 (2013)
  • Author(s): 鶴﨑 美徳、中島 光子、才津 浩智、三宅 紀子、松本 直通
  • Organizer: 第58回日本人類遺伝学会
  • Place of Presentation: 江陽グランドホテル（宮城県仙台市）
• [Presentation] ネマリンミオパチーの新規原因遺伝子KLHL40 の同定 (2013)
  • Author(s): 宮武 聡子、輿水 江里子、林 由起子、Gianina Ravenscroft、三宅 紀子、土井 宏、鶴﨑 美徳、才津 浩智、小坂 仁、山下 純正、大宅 喬、増澤 祐子、今村 伸太朗、山下 倫明、椎名 政昭、緒方 一博、西野 一三、Nigel Laing、松本 直通
  • Organizer: 第58回日本人類遺伝学会
  • Place of Presentation: 江陽グランドホテル（宮城県仙台市）
• [Presentation] WDR45 のde novo 変異がSENDA を引き起こす (2013)
  • Author(s): 才津 浩智、西村 多喜、村松 一洋、小寺 啓文、熊田 聡子、須貝 研司、笠井 恵美、澤浦 法子、西田 裕哉、星野 愛、龍神 布紀子、吉岡 誠一郎、近藤 有希子、鶴﨑 美徳、中島 光子、三宅 紀子、荒川 浩一、水島 昇、松本 直通
  • Organizer: 第58回日本人類遺伝学会
  • Place of Presentation: 江陽グランドホテル（宮城県仙台市）
• [Presentation] 小児期に小脳萎縮を呈する疾患における全エクソーム解析による遺伝子診断 (2013)
  • Author(s): 大場 ちひろ、小坂 仁、井合 瑞江、山下 純正、鈴木 ゆめ、相田 典子、土井 宏、冨田 敦子、西山 精視、鶴﨑 美徳、中島 光子、三宅 紀子、田中 章景、松本 直通、才津 浩智
  • Organizer: 第58回日本人類遺伝学会
  • Place of Presentation: 江陽グランドホテル（宮城県仙台市）
• [Presentation] 全エクソーム解析によりFIG4 遺伝子に新規変異を同定したYunis-Varon 症候群の一症例 (2013)
  • Author(s): 中島 隼也、岡本 信彦、白石 淳、西村 玄、中島 光子、鶴﨑 美徳、才津 浩智、河島 尚志、松本 直通、三宅 紀子
  • Organizer: 第58回日本人類遺伝学会
  • Place of Presentation: 江陽グランドホテル（宮城県仙台市）
• [Presentation] ケトン血症を伴うLeigh 脳症兄弟例のエクソーム解析 (2013)
  • Author(s): 今川 英里、小坂 仁、山下 暁朗、椎名 政昭、高橋 英彦、杉江 秀夫、中島 光子、鶴﨑 美徳、才津 浩智、緒方 一博、松本 直通、三宅 紀子
  • Organizer: 第58回日本人類遺伝学会
  • Place of Presentation: 江陽グランドホテル（宮城県仙台市）
• [Presentation] コフィン・サイリス症候群における高カルシウム尿症 (2013)
  • Author(s): 植田 紀美子、川戸 和美、松田 圭子、三島 祐子、山本 悠斗、鶴﨑 美徳、松本 直通、岡本 伸彦
  • Organizer: 第58回日本人類遺伝学会
  • Place of Presentation: 江陽グランドホテル（宮城県仙台市）
• [Presentation] ARID1A 新規フレームシフト変異を認めたCoffin-Siris 症候群女児 (2013)
  • Author(s): 清水 健司、大竹 明、鶴﨑 美徳、松本 直通、大橋 博文
  • Organizer: 第58回日本人類遺伝学会
  • Place of Presentation: 江陽グランドホテル（宮城県仙台市）
• [Presentation] クロマチンリモデリングと先天異常 (2013)
  • Author(s): 鶴﨑 美徳、三宅 紀子、松本 直通
  • Organizer: 第58回日本人類遺伝学会
  • Place of Presentation: 江陽グランドホテル（宮城県仙台市）
• [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
• [Book] 分子精神医学 (2013)
  • Author(s): 鶴﨑 美徳、松本 直通
  • Total Pages: 6
  • Publisher: 先端医学社