A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus GEFS in a Tunisian consanguineous familyReport as inadecuate




A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus GEFS in a Tunisian consanguineous family - Download this document for free, or read online. Document in PDF available to download.

BMC Genetics

, 14:93

Complex traits and quantitative genetics

Abstract

BackgroundGenetic epilepsy with febrile seizures plus GEFS+ is a familial epilepsy syndrome with extremely variable expressivity. The aim of our study was to identify the responsible locus for GEFS+ syndrome in a consanguineous Tunisian family showing three affected members, by carrying out a genome-wide single nucleotide polymorphisms SNPs genotyping followed by a whole-exome sequencing. We hypothesized an autosomal recessive AR mode of inheritance.

ResultsParametric linkage analysis and haplotype reconstruction identified a new unique identical by descent IBD interval of 527 kb, flanking by two microsatellite markers, 18GTchr22 and 15ACchr22b, on human chromosome 22q13.31 with a maximum multipoint LOD score of 2.51. Our analysis was refined by the use of a set of microsatellite markers. We showed that one of them was homozygous for the same allele in all affected individuals and heterozygous in healthy members of this family. This microsatellite marker, we called 17ACchr22, is located in an intronic region of TBC1D22A gene, which encodes a GTPase activator activity. Whole-exome sequencing did not reveal any mutation on chromosome 22q13.31 at the genome wide level.

ConclusionsOur findings suggest that TBC1D22A is a new locus for GEFS+.

KeywordsFebrile seizures GEFS+ Autosomal recessive Genome wide SNPs Linkage analysis Exome sequencing Electronic supplementary materialThe online version of this article doi:10.1186-1471-2156-14-93 contains supplementary material, which is available to authorized users.

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Author: Nejla Belhedi - Frédérique Bena - Amel Mrabet - Michel Guipponi - Chiraz Bouchlaka Souissi - Hela Khiari Mrabet - Amel 

Source: https://link.springer.com/







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