The search for causative gene in Coffin-Siris syndrome

• Project/Area Number: 15K19660
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Embryonic/Neonatal medicine
• Research Institution: Kanagawa Children's Medical Center (Clinical Research Institute)
• Principal Investigator: Tsurusaki Yoshinori 地方独立行政法人神奈川県立病院機構神奈川県立こども医療センター(臨床研究所), 臨床研究所, 主任研究員 (70392040)
• Project Period (FY): 2015-04-01 – 2017-03-31
• Project Status: Completed (Fiscal Year 2016)
• Budget Amount: ¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000); Fiscal Year 2016: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000); Fiscal Year 2015: ¥2,990,000 (Direct Cost: ¥2,300,000、Indirect Cost: ¥690,000)
• Keywords: Coffin-Siris症候群 / 疾患責任遺伝子 / 次世代シークエンス解析

Outline of Final Research Achievements

Coffin-Siris syndrome (CSS; MIM 135900), first described by Coffin and Siris in 1970, 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. In the all patients, 88 out of 148 CSS patients (59.5 %) carry a mutation in one of five genes encoding a BAF complex subunit or SOX11; SMARCB1 (10 of 148 patients, 6.8 %), SMARCA4 (14 of 148 patients, 9.5 %), SMARCE1 (2 of 148 patients, 1.4 %), ARID1A (6 of 148 patients, 4.1 %), ARID1B (54 of 148 patients, 36.5 %) or SOX11 (2 of 148 patients, 1.4 %).

Research Products

• [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] Mandibulofacial dysostosis with microcephaly: A case presenting with seizures (2017)
  • Author(s): Matsuo M, Yamauchi A, Ito Y, Sakauchi M, Yamamoto T, Okamoto N, Tsurusaki Y, Miyake N, Matsumoto N, Saito K.
  • Journal Title: Brain Dev. Volume: 39(2) Issue: 2 Pages: 177-181
  • DOI: 10.1016/j.braindev.2016.08.008
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma. (2016)
  • Author(s): Saitsu H, Sonoda M, Higashijima T, Shirozu H, Masuda H, Tohyama J, Kato M, Nakashima M, Tsurusaki Y, Mizuguchi T, Miyatake S, Miyake N, Kameyama S, Matsumoto N.
  • Journal Title: Ann Clin Transl Neurol. Volume: 24 Issue: 5 Pages: 356-65
  • DOI: 10.1002/acn3.300
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures. (2016)
  • Author(s): Fukai R, Saitsu H, Tsurusaki Y, Sakai Y, Haginoya K, Takahashi K, Hubshman MW, Okamoto N, Nakashima M, Tanaka F, Miyake N, Matsumoto N
  • Journal Title: J Hum Genet Volume: 61 Issue: 5 Pages: 381-387
  • DOI: 10.1038/jhg.2016.1
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Human genetic variation database, a reference database of genetic variations in the Japanese population. (2016)
  • Author(s): Higasa K, Miyake N, Yoshimura J, Okamura K, Niihori T, Saitsu H, Doi K, Shimizu M, Nakabayashi K, Aoki Y, Tsurusaki Y, Morishita S, Kawaguchi T, Migita O, (中略), Matsumoto N, Matsuda F.
  • Journal Title: J Hum Genet. Volume: advance online publication Issue: 6 Pages: 547-553
  • DOI: 10.1038/jhg.2016.12
  • Peer Reviewed / Open Access
• [Journal Article] SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases (2016)
  • Author(s): Zarate YA, Bhoj E, Kaylor J, Li D, Tsurusaki Y, Miyake N, Matsumoto N, Phadke S, Escobar L, Irani A, Hakonarson H, Schrier Vergano SA
  • Journal Title: Am J Med Genet A Volume: 170 Issue: 8 Pages: 1967-1973
  • DOI: 10.1002/ajmg.a.37722
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Different X-linked KDM5C Mutations in Affected Male Siblings: Is Maternal Reversion Error Involved? (2016)
  • Author(s): Fujita A, Waga C, Hachiya Y, Kurihara E, Kumada S, Takeshita E, Nakagawa E, Inoue K, Miyatake S, Tsurusaki Y, Nakashima M, Saitsu H, Goto YI, Miyake N, Matsumoto N.
  • Journal Title: Clin Genet. Volume: 90(3) Issue: 3 Pages: 276-281
  • DOI: 10.1111/cge.12767
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux (2016)
  • Author(s): Fujita A, Isidor B, Piloquet H, Corre P, Okamoto N, Nakashima M, Tsurusaki Y, Saitsu H, Miyake N, Matsumoto N
  • Journal Title: J Hum Genet Volume: 61 Issue: 9 Pages: 835-838
  • DOI: 10.1038/jhg.2016.54
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations (2016)
  • Author(s): Hamatani M, Jingami N, Tsurusaki Y, Shimada S, Shimojima K, Asada-Utsugi M, Yoshinaga K, Uemura N, Yamashita H, Uemura K, Takahashi R, Matsumoto N, Yamamoto T
  • Journal Title: J Hum Genet Volume: 61 Issue: 10 Pages: 899-902
  • DOI: 10.1038/jhg.2016.64
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome (2016)
  • Author(s): Miyake N, Abdel-Salam G, Yamagata T, Eid MM, Osaka H, Okamoto N, Mohamed AM, Ikeda T, Afifi HH, Piard J, van Maldergem L, Mizuguchi T, Miyatake S, Tsurusaki Y, Matsumoto N
  • Journal Title: Am J Med Genet A Volume: 170 Issue: 10 Pages: 2662-2670
  • DOI: 10.1002/ajmg.a.37778
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Molecular genetic analysis of 30 families with Joubert syndrome (2016)
  • Author(s): Suzuki T, et al., Matsumoto N
  • Journal Title: Clin Genet Volume: 90 Issue: 6 Pages: 526-535
  • DOI: 10.1111/cge.12836
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1. (2016)
  • Author(s): Wallis M, Tsurusaki Y, Burgess T, Borzi P, Matsumoto N, Miyake N, True D, Patel C.
  • Journal Title: Am J Med Genet A. Volume: 170(3) Issue: 3 Pages: 717-724
  • DOI: 10.1002/ajmg.a.37478
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing. (2016)
  • Author(s): Fujita A, Ando K, Kobayashi E, Mitani K, Okudera K, Nakashima M, Miyatake S, Tsurusaki Y, Saitsu H, Seyama K, Miyake N, Matsumoto N.
  • Journal Title: Hum Genet. Volume: 135(1) Issue: 1 Pages: 61-68
  • DOI: 10.1007/s00439-015-1611-0
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome. (2016)
  • Author(s): Hempel A, Pagnamenta AT, Blyth M, Mansour S, McConnell V, Kou I, Ikegawa S, Tsurusaki Y, Matsumoto N, Lo-Castro A, Plessis G, Albrecht B, Battaglia A, Taylor JC, Howard MF, Keays D, Sohal AS; DDD collaboration, Kühl SJ, Kini U, McNeill A.
  • Journal Title: J Med Genet. Volume: 53(3) Issue: 3 Pages: 152-162
  • DOI: 10.1136/jmedgenet-2015-103393
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome. (2016)
  • Author(s): Imagawa E, Fattal-Valevski A, Eyal O, Miyatake S, Saada A, Nakashima M, Tsurusaki Y, Saitsu H, Miyake N, Matsumoto N.
  • Journal Title: J Neurol Neurosurg Psychiatry. Volume: 87(2) Pages: 212-216
  • DOI: 10.1136/jnnp-2014-310084
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduria. (2016)
  • Author(s): Yamamoto T, Yoshioka S, Tsurusaki Y, Shino S, Shimojima K, Shigematsu Y, Takeuchi Y, Matsumoto N.
  • Journal Title: Brain Dev. Volume: 38(1) Issue: 1 Pages: 142-144
  • DOI: 10.1016/j.braindev.2015.04.012
  • Peer Reviewed
• [Journal Article] Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay (2016)
  • Author(s): Saitsu H, Fukai R, Ben-Zeev B, Sakai Y, Mimaki M, Okamoto N, Suzuki Y, Monden Y, Saito H, Tziperman B, Torio M, Akamine S, Takahashi N, Osaka H, Yamagata T, Nakamura K, Tsurusaki Y, Nakashima M, Miyake N, Shiina M, Ogata K, Matsumoto N
  • Journal Title: Eur J Hum Genet Volume: 24(1) Issue: 1 Pages: 129-134
  • DOI: 10.1038/ejhg.2015.92
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] De novo GABRA1 mutations in Ohtahara and West syndromes (2015)
  • Author(s): ○Hirofumi Kodera, et al, Hirotomo Saitsu and Naomichi Matsumoto
  • Journal Title: Epilepsia Volume: 57 Issue: 4 Pages: 566-573
  • DOI: 10.1111/epi.13344
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] De novo DNM1 mutations in two cases of epileptic encephalopathy. (2015)
  • Author(s): Nakashima M, Kouga T, Lourenço CM, Shiina M, Goto T, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Ogata K, Osaka H, Matsumoto N.
  • Journal Title: Epilepsia Volume: Epub 2015 Nov 27. Issue: 1
  • DOI: 10.1111/epi.13257
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder. (2015)
  • Author(s): Hashimoto R, Nakazawa T, Tsurusaki Y, Yasuda Y, Nagayasu K, Matsumura K, Kawashima H, Yamamori H, Fujimoto M, Ohi K, Umeda-Yano S, Fukunaga M, Fujino H, Kasai A, Hayata-Takano A, Shintani N, Takeda M, Matsumoto N, Hashimoto H.
  • Journal Title: Journal of Human Genetics Volume: 61 Issue: 3 Pages: 199-206
  • DOI: 10.1038/jhg.2015.141
  • Peer Reviewed / Open Access
• [Journal Article] De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing. (2015)
  • Author(s): Saitsu, H., T. Akita, J. Tohyama, H. Goldberg-Stern, Y. Kobayashi, R. Cohen, M. Kato, C. Ohba, S. Miyatake, Y. Tsurusaki, M. Nakashima, N. Miyake, A. Fukuda, and N. Matsumoto
  • Journal Title: Sci Rep Volume: 5 Issue: 1 Pages: 15199-15199
  • DOI: 10.1038/srep15199
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Biallelic mutations in nuclear pore complex subunit NUP107 cause early-childhood-onset steroid-resistant nephrotic syndrome (2015)
  • Author(s): Miyake N, Tsukaguchi H, Koshimizu E, Shono A, Matsunaga S, Shiina M, Mimura Y, Imamura S, Hirose T, Okudela K, Nozu K, Akioka Y, Hattori M, Yoshikawa N, Kitamura A, Cheong HI, Kagami S, Yamashita M, Fujita A, Miyatake S, Tsurusaki Y, Nakashima M, Saitsu H, Ohashi K, Imamoto N, Ryo A, Ogata K, Iijima K, Matsumoto N
  • Journal Title: Am J Hum Genet Volume: 97(4) Issue: 4 Pages: 555-566
  • DOI: 10.1016/j.ajhg.2015.08.013
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance. (2015)
  • Author(s): Ohba, C., K. Haginoya, H. Osaka, K. Kubota, A. Ishiyama, T. Hiraide, H. Komaki, M. Sasaki, S. Miyatake, M. Nakashima, Y. Tsurusaki, N. Miyake, F. Tanaka, H. Saitsu, and N. Matsumoto
  • Journal Title: J Hum Genet Volume: 60 Issue: 12 Pages: 739-42
  • DOI: 10.1038/jhg.2015.108
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] DNA methylation and gene expression dynamics during spermatogonial stem cell differentiation in the early postnatal mouse testis. (2015)
  • Author(s): Kubo N, Toh H, Shirane K, Shirakawa T, Kobayashi H, Sato T, Sone H, Sato Y, Tomizawa S, Tsurusaki Y, Shibata H, Saitsu H, Suzuki Y, Matsumoto N, Suyama M, Kono T, Ohbo K, Sasaki H.
  • Journal Title: BMC Genomics. Volume: 16 Issue: 1 Pages: 624-624
  • DOI: 10.1186/s12864-015-1833-5
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] De novo KCNT1 mutations in early-onset epileptic encephalopathy. (2015)
  • Author(s): Ohba C, Kato M, Takahashi N, Osaka H, Shiihara T, Tohyama J, Nabatame S, Azuma J, Fujii Y, Hara M, Tsurusawa R, Inoue T, Ogata R, Watanabe Y, Togashi N, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Saitsu H, Matsumoto N.
  • Journal Title: Epilepsia Volume: 56(9) Issue: 9
  • DOI: 10.1111/epi.13072
  • Peer Reviewed / Open Access
• [Journal Article] Novel compound heterozygous LIAS mutations cause glycine encephalopathy (2015)
  • Author(s): Tsurusaki Y, Tanaka R, Shimada S, Shimojima K, Shiina M, Nakashima M, Saitsu H, Miyake N, Ogata K, Yamamoto T, Matsumoto N
  • Journal Title: J Hum Genet Volume: 60(10) Issue: 10 Pages: 631-635
  • DOI: 10.1038/jhg.2015.72
  • Peer Reviewed / Open Access
• [Journal Article] Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb (2015)
  • Author(s): Nakashima M, Saitsu H, Takei N, Tohyama J, Kato M, Kitaura H, Shiina M, Shirozu H, Masuda H, Watanabe K, Ohba C, Tsurusaki Y, Miyake N, Zheng Y, Sato T, Takebayashi H, Ogata K, Kameyama S, Kakita A, Matsumoto N
  • Journal Title: Ann. Neurol. Volume: 78 Issue: 3 Pages: 375-386
  • DOI: 10.1002/ana.24444
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE. (2015)
  • Author(s): Wada T, Takano K, Tsurusaki Y, Miyake N, Nakashima M, Saitsu H, Matsumoto N, Osaka H.
  • Journal Title: Pediatr Int. Volume: 57 Issue: 2 Pages: 324-326
  • DOI: 10.1111/ped.12613
  • NAID: 120005666180
  • Peer Reviewed / Open Access
• [Journal Article] GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders (2015)
  • Author(s): Ohba C, Shiina M, Tohyama J, Haginoya K, Lerman-Sagie T, Okamoto N, Blumkin L, Lev D, Mukaida S, Nozaki F, Uematsu M, Onuma A, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Kato M, Ogata K, Saitsu H, Matsumoto N
  • Journal Title: Epilepsia Volume: 印刷中 Issue: 6 Pages: 841-848
  • DOI: 10.1111/epi.12987
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease. (2015)
  • Author(s): Shimada S, Shimojima K, Sangu N, Hoshino A, Hachiya Y, Ohto T, Hashi Y, Nishida K, Mitani M, Kinjo S, Tsurusaki Y, Matsumoto N, Morimoto M, Yamamoto T.
  • Journal Title: Brain Dev. Volume: 37(10) Issue: 10 Pages: 960-966
  • DOI: 10.1016/j.braindev.2015.03.003
  • Peer Reviewed
• [Journal Article] Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. (2015)
  • Author(s): Miyake N, Tsurusaki Y, Koshimizu E, Okamoto N, Kosho T, Brown NJ, Tan TY, Yap PJ, Suzumura H, Tanaka T, Nagai T, Nakashima M, Saitsu H, Niikawa N, Matsumoto N.
  • Journal Title: Clin Genet. Volume: 89(1) Issue: 1 Pages: 115-119
  • DOI: 10.1111/cge.12586
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] A case of autism spectrum disorder arising from a de novo missense mutation in POGZ. (2015)
  • Author(s): Fukai R, Hiraki Y, Yofune H, Tsurusaki Y, Nakashima M, Saitsu H, Tanaka F, Miyake N, Matsumoto N.
  • Journal Title: J Hum Genet. Volume: 60(5) Issue: 5 Pages: 277-279
  • DOI: 10.1038/jhg.2015.13
  • Peer Reviewed / Open Access
• [Journal Article] A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation (2015)
  • Author(s): Kunii M, Doi H, Higashiyama Y, Kugimoto C, Ueda N, Hirata J, Tomita-Katsumoto A, Kashikura-Kojima M, Kubota S, Taniguchi M, Murayama K, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N, Tanaka F.
  • Journal Title: J Hum Genet Volume: 60 Issue: 4 Pages: 187-191
  • DOI: 10.1038/jhg.2015.7
  • NAID: 40020433141
  • Peer Reviewed / Open Access
• [Journal Article] Familial schwannomatosis with a germline mutation of SMARCB1 in Japan. (2015)
  • Author(s): Asai K, Tani S, Mineharu Y, Tsurusaki Y, Imai Y, Agawa Y, Iwaki K, Matsumoto N, Sakai N.
  • Journal Title: Brain Tumor Pathol. Volume: 32(3) Issue: 3 Pages: 216-220
  • DOI: 10.1007/s10014-015-0213-9
  • Peer Reviewed
• [Journal Article] Detecting copy number variations in whole exome sequencing data using exome hidden markov model - an expectation of “exome-first” approach. (2015)
  • Author(s): Miyatake S, Koshimizu E, Fujita A, Fukai R, Imagawa E, Ohba C, Kuki I, Makita Y, Ogata T, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N
  • Journal Title: J Hum Genet Volume: 1 Issue: 4 Pages: 124-124
  • DOI: 10.1038/jhg.2014.124
  • Peer Reviewed / Open Access
• [Journal Article] Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome. (2015)
  • Author(s): Imagawa E, Fukai R, Behnam M, Goyal M, Nouri N, Nakashima M, Tsurusaki Y, Saitsu H, Salehi M, Kapoor S, Tanaka F, Miyake N, Matsumoto N.
  • Journal Title: Hum Genome Var. Volume: 2 Issue: 1 Pages: 15034-15034
  • DOI: 10.1038/hgv.2015.34
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Presentation] The new phenotype observed in Coffin-Siris syndrome patients with the mutations of the ARID1B (2016)
  • Author(s): Y. Tsurusaki, Y. Enomoto, T. Yokoi, M. Minatogawa, C. Hatano-Abe, K. Ida, T. Naruto, K. Kurosawa
  • Organizer: American Society of Human Genetics 2016 Meeting
  • Place of Presentation: Vancouver (Canada)
  • Year and Date: 2016-10-18
  • Int'l Joint Research
• [Presentation] Whole exome sequence identified disease-causing CNVs of VPS13B responsible for Cohen syndrome in siblings with non-syndromic intellectual disability (2016)
  • Author(s): Y. Enomoto, Y. Tsurusaki, T. Yokoi, M. Minatogawa, C. Hatano-Abe, K. Ida, T. Naruto, J. Mitsui, S. Tsuji, S. Morishita, K. Kurosawa
  • Organizer: American Society of Human Genetics 2016 Meeting
  • Place of Presentation: Vancouver (Canada)
  • Year and Date: 2016-10-18
  • Int'l Joint Research
• [Presentation] Cerebral vascular malformations in patients with ACTA2 mutations (2016)
  • Author(s): C. Abe, T. Yokoi, M. Takagi, Y. Enomoto, Y. Tsurusaki, T. Naruto, T. Goto, H. Ueda, Y. Fujii, N. Aida, K. Kurosawa
  • Organizer: American Society of Human Genetics 2016 Meeting
  • Place of Presentation: Vancouver (Canada)
  • Year and Date: 2016-10-18
  • Int'l Joint Research
• [Presentation] A double mutation including a novel mutation of SLC9A9 gene and mosaic mutation of PORCN gene in a male patient with multiple congenital anomalies, intellectual disability, and autism spectrum disorder (2016)
  • Author(s): M. Minatogawa, C. Abe, T. Yokoi, Y. Enomoto, K. Ida, Y. Tsurusaki, N. Harada, T. Naruto, K. Kurosawa
  • Organizer: American Society of Human Genetics 2016 Meeting
  • Place of Presentation: Vancouver (Canada)
  • Year and Date: 2016-10-18
  • Int'l Joint Research
• [Presentation] Somatic mosaicism in Nemaline myopathy detected by next generation sequencing (2016)
  • Author(s): T. Yokoi, M. Minatogawa, C. Abe, Y. Tsurusaki, Y. Enomoto, K. Watanabe, T. Naruto, K. Kurosawa
  • Organizer: American Society of Human Genetics 2016 Meeting
  • Place of Presentation: Vancouver (Canada)
  • Year and Date: 2016-10-18
  • Int'l Joint Research
• [Presentation] Molecular genetic analysis of 30 families with Joubert syndrome and related disorders (2016)
  • Author(s): T. Suzuki, N. Miyake, Y. Tsurusaki, M. Nakashima, H. Saitsu, S. Takeda, N. Matsumoto
  • Organizer: American Society of Human Genetics 2016 Meeting
  • Place of Presentation: Vancouver (Canada)
  • Year and Date: 2016-10-18
  • Int'l Joint Research
• [Presentation] double mutation による先天異常症候群の4 例 (2016)
  • Author(s): 湊川 真理、羽田野ちひろ、横井 貴之、大橋 育子、黒田友紀子、井田 一美、榎本 友美、鶴﨑 美徳、原田 法彰、齋藤 敏幸、永井 淳一、成戸 卓也、武内 俊樹、上原 朋子、小崎健次郎、黒澤 健司
  • Organizer: 第56回日本先天異常学会学術集会
  • Place of Presentation: 姫路商工会議所 (兵庫県姫路市)
  • Year and Date: 2016-07-29
• [Presentation] Next-generation sequencing identifies novel ARID1B mutations in patients with Coffin-Siris syndrome (2016)
  • Author(s): Y. Tsurusaki, Y. Enomoto, T. Yokoi, C. Hatano, K. Ida, K. Kurosawa
  • Organizer: The 13th International Congress of Human Genetics in 2016
  • Place of Presentation: 国立京都国際会館 (京都府京都市左京区)
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Presentation] The comprehensive genetic analysis of Rubinstein-Taybi syndrome (RSTS) (2016)
  • Author(s): Y. Enomoto, T. Yokoi, C. Hatano, I. Ohashi, Y. Kuroda, Y. Tsurusaki, K. Ida, T. Naruto, K. Kurosawa
  • Organizer: The 13th International Congress of Human Genetics in 2016
  • Place of Presentation: 国立京都国際会館 (京都府京都市左京区)
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Presentation] Dosage changes of NIPBL cause various types of neurodevelopmental disability (2016)
  • Author(s): C. Hatano, T. Yokoi, Y. Enomoto, Y. Tsurusaki, T. Saito, J. Nagai, K. Kurosawa
  • Organizer: The 13th International Congress of Human Genetics in 2016
  • Place of Presentation: 国立京都国際会館 (京都府京都市左京区)
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Presentation] Early debelopment of rare tumors in individuals with congenital malformation syndrome (2016)
  • Author(s): M. Minatogawa, F. Iwasaki, K. Fukuda, C. Hatano, T. Yokoi, Y. Enomoto, K. Ida, Y. Tsurusaki, N. Harada, T. Saito, J. Nagai, H. Goto, K. Kurosawa
  • Organizer: The 13th International Congress of Human Genetics in 2016
  • Place of Presentation: 国立京都国際会館 (京都府京都市左京区)
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Presentation] Gross insertion in FBN1 causes Marfan syndrome (2016)
  • Author(s): T. Yokoi, C. Hatano, Y. Tsurusaki, Y. Enomoto, T. Naruto, K. Kurosawa
  • Organizer: The 13th International Congress of Human Genetics in 2016
  • Place of Presentation: 国立京都国際会館 (京都府京都市左京区)
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Presentation] Low-prevalence somatic TSC2 mutations in sporadic lymphangioleiomyomatosis identified by deep-sequencing (2016)
  • Author(s): A. Fujita, K. Ando, E. Kobayashi, K. Mitani, K. Okudera, M. Nakashima, S. Miyatake, Y. Tsurusaki, H. Saitsu, K. Seyama, N. Miyake, N. Matsumoto
  • Organizer: The 13th International Congress of Human Genetics in 2016
  • Place of Presentation: 国立京都国際会館 (京都府京都市左京区)
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Presentation] Broadening the phenotypic spectrum of ANKRD11-related stndrome (2016)
  • Author(s): S. Miyatake, N. Okamoto, Z. Stark, Y. Tsurusaki, M. Nakashima, H. Saitsu, N. Miyake, A. Ohtake, N. Matsumoto
  • Organizer: The 13th International Congress of Human Genetics in 2016
  • Place of Presentation: 国立京都国際会館 (京都府京都市左京区)
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Presentation] De novo DNM1 mutations in two cases of epileptic encephalopathy (2016)
  • Author(s): M. Nakashima, T. Kouga, C. M. Lourenco, M. Shiina, T. Goto, Y. Tsurusaki, S. Miyatake, N. Miyake, H. Saitsu, K. Ogata, H. Osaka, N. Matsumoto
  • Organizer: The 13th International Congress of Human Genetics in 2016
  • Place of Presentation: 国立京都国際会館 (京都府京都市左京区)
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Presentation] De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing (2016)
  • Author(s): H. Saitsu, T. Akita, J. Tohyama, H. Goldberg-Stern, Y. Kobayashi, R. Cohen, M. Kato, C. Ohba, S. Miyatake, Y. Tsurusaki, M. Nakashima, N. Miyake, A. Fukuda, N. Matsumoto
  • Organizer: The 13th International Congress of Human Genetics in 2016
  • Place of Presentation: 国立京都国際会館 (京都府京都市左京区)
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Presentation] A case of mandibulofacial dysostosis with microcephaly presenting with epilepsy (2016)
  • Author(s): M. Matsuo, M. Sakauchi, A. Yamauchi, Y. Ito, T. Yamamoto, N. Okamoto, Y. Tsurusaki, N. Miyake, N. Matsumoto, K. Saito
  • Organizer: The 13th International Congress of Human Genetics in 2016
  • Place of Presentation: 国立京都国際会館 (京都府京都市左京区)
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Presentation] 全エクソーム解析によるコフィン-サイリス症候群の責任遺伝子の同定 (2015)
  • Author(s): 鶴﨑 美徳
  • Organizer: 日本人類遺伝学会第60回大会
  • Place of Presentation: 京王プラザホテル (東京都新宿区)
  • Year and Date: 2015-10-14
• [Presentation] 高グリシン血症の責任遺伝子LIAS の新規複合ヘテロ接合体変異の同定 (2015)
  • Author(s): 鶴﨑 美徳、中島 光子、才津 浩智、三宅 紀子、松本 直通
  • Organizer: 日本人類遺伝学会第60回大会
  • Place of Presentation: 京王プラザホテル (東京都新宿区)
  • Year and Date: 2015-10-14
• [Presentation] 全ゲノムシークエンスを用いた転座および逆位切断点の同定 (2015)
  • Author(s): 鈴木 敏史、鶴﨑 美徳、三宅 紀子、中島 光子、才津 浩智、竹田 省、松本 直通
  • Organizer: 日本人類遺伝学会第60回大会
  • Place of Presentation: 京王プラザホテル (東京都新宿区)
  • Year and Date: 2015-10-14
• [Presentation] Wiedemann-Steiner 症候群における新規KMT2A 変異と臨床症状の検討 (2015)
  • Author(s): 三宅 紀子、鶴﨑 美徳、輿水 江里子、新川 詔夫、松本 直通
  • Organizer: 日本人類遺伝学会第60回大会
  • Place of Presentation: 京王プラザホテル (東京都新宿区)
  • Year and Date: 2015-10-14
• [Presentation] EGFR の機能喪失型変異の複合へテロ接合を有する一男児例 (2015)
  • Author(s): 横井 貴之、羽田野 ちひろ、鶴﨑 美徳、榎本 友美、成戸 卓也、林 至恩、小林 正久、井田 博幸、黒澤 健司
  • Organizer: 日本人類遺伝学会第60回大会
  • Place of Presentation: 京王プラザホテル (東京都新宿区)
  • Year and Date: 2015-10-14
• [Presentation] KIRREL3 ハプロ不全はJacobsen 症候群における精神遅滞をもたらす (2015)
  • Author(s): 羽田野 ちひろ、横井 貴之、原田 法彰、井田 一美、榎本 友美、鶴﨑 美徳、永井 淳一、黒澤 健司
  • Organizer: 日本人類遺伝学会第60回大会
  • Place of Presentation: 京王プラザホテル (東京都新宿区)
  • Year and Date: 2015-10-14
• [Presentation] KDM6A に部分欠失を認めた歌舞伎症候群の一例 (2015)
  • Author(s): 湊川 真理、横井 貴之、羽田野 ちひろ、榎本 友美、井田 一美、鶴﨑 美徳、原田 法彰、齋藤 敏幸、永井 淳一、黒澤 健司
  • Organizer: 日本人類遺伝学会第60回大会
  • Place of Presentation: 京王プラザホテル (東京都新宿区)
  • Year and Date: 2015-10-14
• [Presentation] GNAO1 変異が引き起こす表現型の広がり：てんかん性脳症から不随意運動を伴う発達遅滞まで (2015)
  • Author(s): 才津 浩智、深井 綾子、酒井 康成、三牧 正和、岡本 伸彦、鈴木 保宏、門田 行史、齊藤 洋、鳥尾 倫子、赤峰 哲、高橋 長久、小坂 仁、山形 崇倫、中村 和幸、中島 光子、鶴﨑 美徳、三宅 紀子、椎名 政昭、緒方 一博、松本 直通
  • Organizer: 日本人類遺伝学会第60回大会
  • Place of Presentation: 京王プラザホテル (東京都新宿区)
  • Year and Date: 2015-10-14
• [Presentation] C12orf65 変異を認めたLeigh 脳症の一卵性双胎例 (2015)
  • Author(s): 今川 英里、Fattal-Valenski Aviva、Eyal Ori、宮武 聡子、Saada Ann、中島 光子、鶴﨑 美徳、才津 浩智、三宅 紀子
  • Organizer: 日本人類遺伝学会第60回大会
  • Place of Presentation: 京王プラザホテル (東京都新宿区)
  • Year and Date: 2015-10-14
• [Presentation] MEIS2 にde novo ナンセンス変異を認めた知的障害多発奇形の1 例 (2015)
  • Author(s): 藤田 京志、Bertrand Isidor、中島 光子、鶴﨑 美徳、才津 浩智、松本 直通、三宅 紀子
  • Organizer: 日本人類遺伝学会第60回大会
  • Place of Presentation: 京王プラザホテル (東京都新宿区)
  • Year and Date: 2015-10-14
• [Presentation] MED13L のミスセンス変異を認めた発達遅滞と特徴的形態を有する女児例 (2015)
  • Author(s): 稲葉 美枝、丸山 幸一、村松 友佳子、谷合 弘子、鶴﨑 美徳、松本 直通、水野 誠司
  • Organizer: 日本人類遺伝学会第60回大会
  • Place of Presentation: 京王プラザホテル (東京都新宿区)
  • Year and Date: 2015-10-14
• [Presentation] Novel compound heterozygous LIAS mutations cause glycine encephalopathy (2015)
  • Author(s): Y. Tsurusaki, M. Nakashima, H. Saitsu, N. Miyake, N. Matsumoto
  • Organizer: American Society of Human Genetics 2015 Meeting
  • Place of Presentation: Baltimore(USA)
  • Year and Date: 2015-10-06
  • Int'l Joint Research
• [Presentation] A nonsense C12orf65 mutation in Indian-Jewish monozygotic female twins with Leigh syndrome (2015)
  • Author(s): E. Imagawa, A. Fattal-Valevski, O. Eyal, S. Miyatake, A. Saada, M. Nakashima, Y. Tsurusaki, H. Saitsu, N. Miyake, N. Matsumoto
  • Organizer: American Society of Human Genetics 2015 Meeting
  • Place of Presentation: Baltimore(USA)
  • Year and Date: 2015-10-06
  • Int'l Joint Research
• [Presentation] Clinical and genetic analysis of Wiedemann–Steiner syndrome caused by KMT2A mutations (2015)
  • Author(s): N. Miyake, Y. Tsurusaki, E. Koshimizu, N. Niikawa, N. Matsumoto
  • Organizer: American Society of Human Genetics 2015 Meeting
  • Place of Presentation: Baltimore(USA)
  • Year and Date: 2015-10-06
  • Int'l Joint Research
• [Presentation] Detecting copy number variations by analyzing whole exome sequencing data using the eXome Hidden Markov Model (2015)
  • Author(s): S. Miyatake, E. Koshimizu, A. Fujita, R. Fukai, E. Imagawa, C. Ohba, I. Kuki, A. Araki, Y. Makita, T. Ogata, M. Nakashima, Y. Tsurusaki, N. Miyake, H. Saitsu, N. Matsumoto
  • Organizer: American Society of Human Genetics 2015 Meeting
  • Place of Presentation: Baltimore(USA)
  • Year and Date: 2015-10-06
  • Int'l Joint Research
• [Presentation] Somatic mutations in the MTOR gene cause focal cortical dysplasia type IIb (2015)
  • Author(s): M. Nakashima, H. Saitsu, N. Takei, J. Tohyama, M. Kato, H. Kitaura, M. Shiina, H. Sirouzu, H. Masuda, K. Watanabe, C. Ohba, Y. Tsurusaki, N. Miyake, Y. Zheng, T. Sato, H. Takebayashi, K. Ogata, S. Kameyama, A. Kakita, N. Matsumoto
  • Organizer: American Society of Human Genetics 2015 Meeting
  • Place of Presentation: Baltimore(USA)
  • Year and Date: 2015-10-06
  • Int'l Joint Research
• [Presentation] Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay (2015)
  • Author(s): H. Saitsu, R. Fukai, B. Ben-Zeev, Y. Sakai, M. Mimaki, N. Okamoto, Y. Suzuki, Y. Monden, H. Saito, B. Tziperman, M. Torio, S. Akamine, N. Takahashi, H. Osaka, T. Yamagata, K. Nakamura, Y. Tsurusaki, M. Nakashima, N. Miyake, M. Shiina, K. Ogata, N. Matsumoto
  • Organizer: American Society of Human Genetics 2015 Meeting
  • Place of Presentation: Baltimore(USA)
  • Year and Date: 2015-10-06
  • Int'l Joint Research
• [Presentation] Loss of function mutation of EGFR in compound heterozygous state causes severe skin defect, gastrointestinal dysfunction and electrolyte imbalance (2015)
  • Author(s): T. Yokoi, C. Hatano, Y. Tsurusaki, Y. Enomoto, T. Naruto, S. Hayashi, M. Kobayashi, H. Ida, K. Kurosawa
  • Organizer: American Society of Human Genetics 2015 Meeting
  • Place of Presentation: Baltimore(USA)
  • Year and Date: 2015-10-06
  • Int'l Joint Research
• [Presentation] コフィン- サイリス症候群の新規責任遺伝子SOX11 の同定 (2015)
  • Author(s): 鶴﨑 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55回日本先天異常学会学術集会・第38回日本小児遺伝学会学術集会 合同大会
  • Place of Presentation: パシフィコ横浜会議センター(神奈川県横浜市)
  • Year and Date: 2015-07-25
• [Presentation] GRIN1 mutations cause encephalopathy with epilepsy, hyperkinetic and stereotyped movement disorders (2015)
  • Author(s): 才津 浩智、大場ちひろ、椎名 政昭、遠山 潤、萩野谷和裕、Lerman-Sagie Tally、岡本 伸彦、Blumkin Lubov、Lev Dorit、向田 壮一、野崎 章仁、植松 貢、大沼 晃、小寺 啓文、中島 光子、鶴﨑 美徳、三宅 紀子、加藤 光広、緒方 一博、松本 直通
  • Organizer: 第55回日本先天異常学会学術集会・第38回日本小児遺伝学会学術集会 合同大会
  • Place of Presentation: パシフィコ横浜会議センター(神奈川県横浜市)
  • Year and Date: 2015-07-25
• [Presentation] SKI 遺伝子変異が同定されたShprinzen-Goldberg 症候群の男児 (2015)
  • Author(s): 加藤芙弥子、松本 直通、鶴﨑 美徳、小崎 里華、中島 信一、深見 真紀、緒方 勤
  • Organizer: 第55回日本先天異常学会学術集会・第38回日本小児遺伝学会学術集会 合同大会
  • Place of Presentation: パシフィコ横浜会議センター(神奈川県横浜市)
  • Year and Date: 2015-07-25