A novel gene locus of photogenic childhood absence evolving to JME
Abstract number :
3.322
Submission category :
11. Human Genetics
Year :
2010
Submission ID :
13334
Source :
www.aesnet.org
Presentation date :
12/3/2010 12:00:00 AM
Published date :
Dec 2, 2010, 06:00 AM
Authors :
Miyabi Tanaka, P. Cossette, J. Bailey, R. Duron and A. Delgado-Escueta
Rationale: To identify a novel gene for photogenic childhood absence evolving to JME. Methods: Whole genome scan with 440 microsatellites was performed in one large family ascertained through a proband with photogenic childhood absence evolving to JME. (four generations with 46 members of which 11 were clinically affected and one EEG affected). Two point linkage analysis using autosomal dominant model, 70 % penetrance, disease allele frequency of 0.001 and phenocopy and gene mutation rates of 1% was performed. The segregated hot-spot was narrowed by recombination mapping and constructing haplotypes using SNPs. Results: The maximam LOD score was 2.7 (Zmax, theta=0, m=f) for microsatellites for chr 10q11.23-10q21.3 (D10S1220, D10S1225). Advanced study by haplotypes and SNPs narrowed the segregated hot-spot to 1.5 cM. Conclusions: Our result suggests a novel gene for photogenic CAE evolving to JME located within chr10q11.23. Targeted genomic capture and exon sequencing is ongoing for this region to discover the new epilepsy gene.
Genetics