The search for causative gene in Coffin-Siris syndrome
Project/Area Number |
15K19660
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Research Category |
Grant-in-Aid for Young Scientists (B)
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Allocation Type | Multi-year Fund |
Research Field |
Embryonic/Neonatal medicine
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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)
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Project Period (FY) |
2015-04-01 – 2017-03-31
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Project Status |
Completed (Fiscal Year 2016)
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Budget Amount *help |
¥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)
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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 %).
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Report
(3 results)
Research Products
(74 results)
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[Journal Article] Biallelic mutations in MYPN, encoding Myopalladin, are associated with childhood-onset, slowly progressive nemaline myopathy2017
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
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Journal Title
American Journal of Human Genetics
Volume: 100
Issue: 1
Pages: 169-178
DOI
Related Report
Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
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[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.
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Journal Title
Ann Clin Transl Neurol.
Volume: 24
Issue: 5
Pages: 356-65
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[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
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Journal Title
J Hum Genet
Volume: 61
Issue: 5
Pages: 381-387
DOI
Related Report
Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
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[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.
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Journal Title
J Hum Genet.
Volume: advance online publication
Issue: 6
Pages: 547-553
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases2016
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
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Journal Title
Am J Med Genet A
Volume: 170
Issue: 8
Pages: 1967-1973
DOI
Related Report
Peer Reviewed / Int'l Joint Research
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[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.
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Journal Title
Clin Genet.
Volume: 90(3)
Issue: 3
Pages: 276-281
DOI
Related Report
Peer Reviewed / Acknowledgement Compliant
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[Journal Article] The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations2016
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
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Journal Title
J Hum Genet
Volume: 61
Issue: 10
Pages: 899-902
DOI
Related Report
Peer Reviewed / Int'l Joint Research
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[Journal Article] Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome2016
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
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Journal Title
Am J Med Genet A
Volume: 170
Issue: 10
Pages: 2662-2670
DOI
Related Report
Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
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[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.
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Journal Title
Hum Genet.
Volume: 135(1)
Issue: 1
Pages: 61-68
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[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.
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Journal Title
J Med Genet.
Volume: 53(3)
Issue: 3
Pages: 152-162
DOI
Related Report
Peer Reviewed / Int'l Joint Research
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[Journal Article] Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay2016
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
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Journal Title
Eur J Hum Genet
Volume: 24(1)
Issue: 1
Pages: 129-134
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[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.
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Journal Title
Epilepsia
Volume: Epub 2015 Nov 27.
Issue: 1
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
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[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.
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Journal Title
Journal of Human Genetics
Volume: 61
Issue: 3
Pages: 199-206
DOI
Related Report
Peer Reviewed / Open Access
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[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
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Journal Title
Sci Rep
Volume: 5
Issue: 1
Pages: 15199-15199
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Related Report
Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
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[Journal Article] Biallelic mutations in nuclear pore complex subunit NUP107 cause early-childhood-onset steroid-resistant nephrotic syndrome2015
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
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Journal Title
Am J Hum Genet
Volume: 97(4)
Issue: 4
Pages: 555-566
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[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
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Journal Title
J Hum Genet
Volume: 60
Issue: 12
Pages: 739-42
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[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.
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Journal Title
BMC Genomics.
Volume: 16
Issue: 1
Pages: 624-624
DOI
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Peer Reviewed / Open Access / Int'l Joint Research
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[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.
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Journal Title
Epilepsia
Volume: 56(9)
Issue: 9
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Novel compound heterozygous LIAS mutations cause glycine encephalopathy2015
Author(s)
Tsurusaki Y, Tanaka R, Shimada S, Shimojima K, Shiina M, Nakashima M, Saitsu H, Miyake N, Ogata K, Yamamoto T, Matsumoto N
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Journal Title
J Hum Genet
Volume: 60(10)
Issue: 10
Pages: 631-635
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb2015
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
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Journal Title
Ann. Neurol.
Volume: 78
Issue: 3
Pages: 375-386
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders2015
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
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Journal Title
Epilepsia
Volume: 印刷中
Issue: 6
Pages: 841-848
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[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.
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Journal Title
Brain Dev.
Volume: 37(10)
Issue: 10
Pages: 960-966
DOI
Related Report
Peer Reviewed
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[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.
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Journal Title
Clin Genet.
Volume: 89(1)
Issue: 1
Pages: 115-119
DOI
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Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation2015
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.
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Journal Title
J Hum Genet
Volume: 60
Issue: 4
Pages: 187-191
DOI
NAID
Related Report
Peer Reviewed / Open Access
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[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
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Journal Title
J Hum Genet
Volume: 1
Issue: 4
Pages: 124-124
DOI
Related Report
Peer Reviewed / Open Access
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[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.
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Journal Title
Hum Genome Var.
Volume: 2
Issue: 1
Pages: 15034-15034
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Presentation] Whole exome sequence identified disease-causing CNVs of VPS13B responsible for Cohen syndrome in siblings with non-syndromic intellectual disability2016
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
Related Report
Int'l Joint Research
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[Presentation] Cerebral vascular malformations in patients with ACTA2 mutations2016
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
Related Report
Int'l Joint Research
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[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 disorder2016
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
Related Report
Int'l Joint Research
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[Presentation] Early debelopment of rare tumors in individuals with congenital malformation syndrome2016
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
Related Report
Int'l Joint Research
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[Presentation] Low-prevalence somatic TSC2 mutations in sporadic lymphangioleiomyomatosis identified by deep-sequencing2016
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
Related Report
Int'l Joint Research
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[Presentation] De novo DNM1 mutations in two cases of epileptic encephalopathy2016
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
Related Report
Int'l Joint Research
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[Presentation] De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing2016
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
Related Report
Int'l Joint Research
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[Presentation] Detecting copy number variations by analyzing whole exome sequencing data using the eXome Hidden Markov Model2015
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
Related Report
Int'l Joint Research
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[Presentation] Somatic mutations in the MTOR gene cause focal cortical dysplasia type IIb2015
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
Related Report
Int'l Joint Research
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[Presentation] Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay2015
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
Related Report
Int'l Joint Research
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