METHOD FOR DETECTING COFFIN-SIRIS SYNDROME

摘要

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.