2013 Fiscal Year Final Research Report
Identification and functional elucidation of novel causative genes in patients with disorders of sex development
| Project/Area Number |
24791103
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
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| Research Institution | National Research Institute for Child Health and Development |
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Principal Investigator |
IGARASHI Maki 独立行政法人国立成育医療研究センター, その他部局等, 研究員 (10623035)
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| Project Period (FY) |
2012-04-01 – 2014-03-31
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| Keywords | 性分化疾患 / 次世代シークエンス / アレイCGH |
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| Research Abstract |
The purpose of this study was to identify genetic defects in patients with disorders of sex development (DSD). We performed next generation sequencing and array-based comparative genomic hybridization.
The results obtained from 257 DSD patients included the following findings. 1) Of 47 patients with the severe DSD, 8, 29 and 4 had causative mutations, candidate mutations and submicroscopic chromosomal deletions, respectively. 2) Of 150 patients with the hypospadias, 7 and 23 carried causative mutations and disease susceptibility polymorphisms, respectively. 3) A patient with hypogonadotropic hypogonadism was shown to have a frameshift mutation in FGF8. These data provided novel information about molecular basis of DSD.
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[Journal Article] De novo Framishift mutation in fibroblast growth gactor 8 in a male patient with gonadotropin deficiecy2014
Author(s)
Suzuki E, Yatsuga S, Igarashi M, Miyado M, Nakabayashi K, Hayashi K, Haka K, Umezawa A, Yamada G, Ogata T, Fukami M
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Journal Title
Hormone Research in Paediatrics
DOI
Peer Reviewed
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[Journal Article] Cyptic genomic rearrangements in three patients with 46, XY disorders of sex development2013
Author(s)
Igarashi M, Dung VC, Suzuki E, Ida S, Nakacho M, Nakabayashi K, Mizuno K, Hayashi Y, Kohri K, Kojima Y, Ogata T, Fukami M
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Journal Title
PLOS One
Volume: Vol. 8
Pages: e68194
DOI
Peer Reviewed
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[Presentation] 尿道下裂患者における既知発症責任遺伝子および感受性遺伝子変異解析2013
Author(s)
今雅史, 鈴木江莉奈, 長谷川行洋, 五十嵐麻希, 福井由宇子, 水野健太郎, 小島祥敬, 林祐太郎, 群健二郎, Dung Vu Chi , 緒方勤, 野々村克也, 深見真紀
Organizer
第47回日本小児内分泌学会学術集会
Place of Presentation
東京
Year and Date
2013-10-12
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[Presentation] A rare case of siblings with partial androgen insensitivity syndrome diagnosed following gynaecomastia and the successful management of gynaecomastia using tamoxifen2013
Author(s)
Saito R, Yamamoto Y, Gotoh M, Araki S, Kubo K, Kawagoe R, Kawada Y, Kusuhara K, Igarashi M, Kato F, Fukami M
Organizer
9th Joint Meeting of Paediatric Endocrinology
Place of Presentation
Milan, Italy
Year and Date
2013-09-21
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[Presentation] Molecular analyses using next-generation technologies for 141 patients with disorders of sex development2013
Author(s)
Igarashi M, Vu Chi Dung, Suzuki E, Ida S, Mizuno K, Kojima Y, Muroya K, Takakuwa S, Oto Y, Takazawa K, Stuji Y, Hasegawa Y, Horikawa R, Ogata T, Fukami M
Organizer
9th Joint Meeting of Paediatric Endocrinology
Place of Presentation
Milan, Italy
Year and Date
2013-09-20
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