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COFFIN-SIRIS SYNDROME DETECTION METHOD

外国特許コード F150008589
整理番号 (S2014-0219-N0)
掲載日 2015年11月26日
出願国 世界知的所有権機関(WIPO)
国際出願番号 2014JP082086
国際公開番号 WO 2015083779
国際出願日 平成26年12月4日(2014.12.4)
国際公開日 平成27年6月11日(2015.6.11)
優先権データ
  • 特願2013-252720 (2013.12.6) JP
発明の名称 (英語) COFFIN-SIRIS SYNDROME DETECTION METHOD
発明の概要(英語) Provided is a novel means that enables genetic diagnosis of cases of Coffin-Siris syndrome (CSS) which cannot be explained by the established responsible gene. Close analysis of 92 CSS patients by the present applicants without total exome sequencing resulted in the discovery of two types of de novo mutation in SOX11 genes from two patients having no blood relation. The SOX11 mutations in said patients were identified as the CSS causal mutations. CSS is an autosomal dominant disease and is detected when a harmful mutation is detected in at least one allele of an SOX11 gene.
従来技術、競合技術の概要(英語) BACKGROUND ART
The monolith syndrome (Coffin-Siris syndrome Coffin - cyclic, MIM % 135900, or less is may be referred to as' CSS ') is, stunted growth, intellectual impairment, microcephaly, specific complexion, adynamic fingernail 5 of the limbs of the first and rare congenital abnormalities syndrome (non-patent document 1). The majority of sporadic cases and in the example, in the autosomal dominant genetic genetic format. 100 Cases or in Japan is reported.
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.
The present inventors have found, in the past, the configuration of the SWI/SNF complex subunit encoded by the gene responsible for CSS was clarified that the gene (non-patent document 2, patent document 1). However, this responsible CSS be explained cases of the entire gene is about 50%, still not yet been elucidated genetic cause of many cases left.
  • 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
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 IR IS JP KE KG KN KP KR KZ LA LC LK LR LS 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 SA 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 KM ML MR NE SN ST TD TG
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