Title:
COFFIN-SIRIS SYNDROME DETECTION METHOD
Document Type and Number:
WIPO Patent Application WO/2015/083779
Kind Code:
A1
Abstract:
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.
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Inventors:
MATSUMOTO NAOMICHI (JP)
TSURUSAKI YOSHINORI (JP)
TSURUSAKI YOSHINORI (JP)
Application Number:
PCT/JP2014/082086
Publication Date:
June 11, 2015
Filing Date:
December 04, 2014
Export Citation:
Assignee:
PUBLIC UNIV CORP YOKOHAMA CITY (JP)
International Classes:
C12Q1/68; C12N15/00; C12N15/09
Domestic Patent References:
| WO2013103094A1 | 2013-07-11 |
Other References:
TSURUSAKI Y. ET AL.: "Mutations affecting components of the SWI/SNF complex cause Coffin- Siris syndrome", NATURE GENETICS, vol. 44, no. 4, 2012, pages 376 - 378, XP055080712, DOI: doi:10.1038/ng.2219
ZWEIER C. ET AL.: "A new face of Borjeson- Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype", JOURNAL OF MEDICAL GENETICS, vol. 50, no. 12, October 2013 (2013-10-01), pages 838 - 847
MARTINO S. ET AL.: "Expression of soxll gene duplicates in zebrafish suggests the reciprocal loss of ancestral gene expression patterns in development", DEVELOPMENTAL DYNAMICS, vol. 217, no. 3, 2000, pages 279 - 292
TSURUSAKI Y. ET AL.: "De novo SOX11 mutations cause Coffin-Siris syndrome", NATURE COMMUNICATIONS, vol. 5, June 2014 (2014-06-01), pages 4011
ZWEIER C. ET AL.: "A new face of Borjeson- Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype", JOURNAL OF MEDICAL GENETICS, vol. 50, no. 12, October 2013 (2013-10-01), pages 838 - 847
MARTINO S. ET AL.: "Expression of soxll gene duplicates in zebrafish suggests the reciprocal loss of ancestral gene expression patterns in development", DEVELOPMENTAL DYNAMICS, vol. 217, no. 3, 2000, pages 279 - 292
TSURUSAKI Y. ET AL.: "De novo SOX11 mutations cause Coffin-Siris syndrome", NATURE COMMUNICATIONS, vol. 5, June 2014 (2014-06-01), pages 4011
Attorney, Agent or Firm:
TANIGAWA AND PARTNERS, PATENT FIRM (JP)
Patent business corporation mountain stream international patent firm (JP)
Patent business corporation mountain stream international patent firm (JP)
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