コフィン−シリス症候群の検出方法

• Format: Patent
• Language: Japanese
• Published: 11.05.2015
• Subjects: BEER; BIOCHEMISTRY; CHEMISTRY; COMPOSITIONS OR TEST PAPERS THEREFOR; COMPOSITIONS THEREOF; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES; CULTURE MEDIA; ENZYMOLOGY; MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS; METALLURGY; MICROBIOLOGY; MICROORGANISMS OR ENZYMES; MUTATION OR GENETIC ENGINEERING; PROCESSES OF PREPARING SUCH COMPOSITIONS; PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS; SPIRITS; VINEGAR; WINE

要約コフィン−シリス症候群（Coffin-Siris syndrome; CSS）の遺伝子診断を可能にする新規な手段が開示されている。典型的なCSS症例5名の全エキソーム配列解析及びさらにCSS患者計23名を対象として行なったhigh-resolution melting等の解析により、クロマチン再構築因子の1種であるSWI/SNF（switching defective/sucrose nonfermenting）複合体のサブユニットをコードする複数の遺伝子にCSS病因変異が同定された。従って、SWI/SNF複合体サブユニットをコードする各遺伝子の変異を指標としてCSSを検出することができる。CSSは常染色体優性疾患であり、患者は変異をヘテロで有する。 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.