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METHOD FOR DETECTING COFFIN-SIRIS SYNDROME

外国特許コード F130007581
整理番号 S2012-0262-N0
掲載日 2013年7月24日
出願国 世界知的所有権機関(WIPO)
国際出願番号 2012JP083113
国際公開番号 WO 2013103094
国際出願日 平成24年12月20日(2012.12.20)
国際公開日 平成25年7月11日(2013.7.11)
優先権データ
  • 特願2012-000136 (2012.1.4) JP
発明の名称 (英語) METHOD FOR DETECTING COFFIN-SIRIS SYNDROME
発明の概要(英語) Disclosed is a novel means with which genetic diagnosis of Coffin-Siris syndrome (CSS) is possible. The CSS pathogenic mutation was identified in multiple genes encoding a subunit of SWI/SNF (switching defective/sucrose nonfermenting) complex, which is a type of chromatin remodeling factor, by full exome sequence analysis of five typical CSS cases and further, analysis such as high resolution melting in a total of 23 CSS patients as subjects. Consequently, CSS can be detected using mutation of each gene encoding the SWI/SNF complex subunit as the indicator. CSS is an autosomal dominant disorder and the patient has the disorder by heterozygous mutation.
従来技術、競合技術の概要(英語) BACKGROUND ART
Syndrome (Coffin-Siris syndrome Coffin -, MIM % 135900, may be referred to as' CSS' is equal to or less than) is, hypoplasia, mental retardation, microcephaly, specific , 5 of the limbs of the first layer of the non-characterized by formation of a rare congenital abnormalities syndrome (non-patent document 1). Example the majority of sporadic cases and, in the autosomal dominant genetic genetic format. Genetic origin has not been resolved.
A combination of CSS diagnosis of more symptoms of the disease is diagnosed by, the appearance of symptoms and differs for each patient, the diagnosis is not easy. From post-natal also some genetic abnormality is suspected, is diagnosed CSS down take longer than several years to be.
  • 出願人(英語)
  • ※2012年7月以前掲載分については米国以外のすべての指定国
  • PUBLIC UNIVERSITY CORPORATION YOKOHAMA CITY UNIVERSITY
  • 発明者(英語)
  • MATSUMOTO, Naomichi
  • TSURUSAKI, Yoshinori
  • MIYAKE, Noriko
国際特許分類(IPC)
指定国 National States: AE AG AL AM AO AT AU AZ BA BB BG BH BN BR BW BY BZ CA CH CL CN CO CR CU CZ DE DK DM DO DZ EC EE EG ES FI GB GD GE GH GM GT HN HR HU ID IL IN IS JP KE KG KM KN KP KR KZ LA LC LK LR LS LT LU LY MA MD ME MG MK MN MW MX MY MZ NA NG NI NO NZ OM PA PE PG PH PL PT QA RO RS RU RW SC SD SE SG SK SL SM ST SV SY TH TJ TM TN TR TT TZ UA UG US UZ VC VN ZA ZM ZW
ARIPO: BW GH GM KE LR LS MW MZ NA RW SD SL SZ TZ UG ZM ZW
EAPO: AM AZ BY KG KZ RU TJ TM
EPO: AL AT BE BG CH CY CZ DE DK EE ES FI FR GB GR HR HU IE IS IT LT LU LV MC MK MT NL NO PL PT RO RS SE SI SK SM TR
OAPI: BF BJ CF CG CI CM GA GN GQ GW ML MR NE SN TD TG
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