Title:
METHOD FOR DETECTING COFFIN-SIRIS SYNDROME
Document Type and Number:
WIPO Patent Application WO/2013/103094
Kind Code:
A1
Abstract:
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.
More Like This:
Inventors:
MATSUMOTO NAOMICHI (JP)
TSURUSAKI YOSHINORI (JP)
MIYAKE NORIKO (JP)
TSURUSAKI YOSHINORI (JP)
MIYAKE NORIKO (JP)
Application Number:
PCT/JP2012/083113
Publication Date:
July 11, 2013
Filing Date:
December 20, 2012
Export Citation:
Assignee:
PUBLIC UNIV CORP YOKOHAMA CITY (JP)
International Classes:
C12Q1/68; C12N15/09
Other References:
YUJIN ONO ET AL.: "Coffin-Siris Shokogun no Sekinin Idenshi Tansaku", ANNUAL MEETING OF THE JAPAN SOCIETY OF HUMAN GENETICS PROGRAM SHOROKUSHU, vol. 52, 12 September 2007 (2007-09-12), pages 138
MARTENS, JOSEPH A. ET AL.: "Recent advances in understanding chromatin remodeling by Swi/Snf complexes.", CURRENT OPINION IN GENETICS & DEVELOPMENT, vol. 13, no. 2, 2003, pages 136 - 142, XP055080710
TSURUSAKI YOSHINORI ET AL.: "Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.", NATURE GENETICS, vol. 44, no. 4, March 2012 (2012-03-01), pages 376 - 378, XP055080712
MARTENS, JOSEPH A. ET AL.: "Recent advances in understanding chromatin remodeling by Swi/Snf complexes.", CURRENT OPINION IN GENETICS & DEVELOPMENT, vol. 13, no. 2, 2003, pages 136 - 142, XP055080710
TSURUSAKI YOSHINORI ET AL.: "Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.", NATURE GENETICS, vol. 44, no. 4, March 2012 (2012-03-01), pages 376 - 378, XP055080712
Attorney, Agent or Firm:
TANIGAWA, Hidejiro (JP)
Mountain stream Eijiro (JP)
Mountain stream Eijiro (JP)
Download PDF:
Claims: