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Linkage mapping of benign familial infantile convulsions (BFIC) and sequencing analysis of KCNQ2 gene in a BFIC family

Objective Benign familial infantile convulsions (BFIC) is an autosomal dominant epileptic disorder with onset at age 3 to 12 months and a favorable outcome This syndrome was described by Vigevano et al as an autosomal dominant disorder occurring in families of Italian ancestry Guipponi et al mapped the BFIC gene to chromosome 19 by linkage analysis We performed a linkage analysis at the BFIC locus of 19q and screened linkage analysis at other epileptic syndromes loci We also performed sequencing on candidate genes in linkage region for finding out mutation Methods Fourteen blood samples were collected from all the 9 affected members of this family At the same time EEG recordering, physical and neurological examination were performed for every family member Six microsatellite markers of 19q were selected between D19S245 and D19S250; 4 microsatellite markers from 20q13 3 and 2 linkage markers from 8q24 were chosen according to BFNC loci Primers sequences reported by Biervert et al were utilized for KCNQ2 exon intron boundaries amplification Results The results of 2 point linkage analysis of 19q from this family suggested that this BFIC family is not linked to 19q and 8q24 At 20q13 3 we obtained a maximum LOD score of 0 6 at D20S480 with penetrance of 90% Haplotype analysis supported a possibly linkage region at 20q13 3 The results of candidate gene KCNQ2 sequencing analysis showed that there was a C/T polymorphism in exon 6, an A/C polymorphism in exon 17 and 4bp insertion polymorphism in intron 14 Conclusion This BFIC family is different from the reported families and has not linkage to 19q, which suggested genetics heterogeneity of BFIC The polymorphic findings from this family will be very helpful to do linkage analysis of other epileptic families and to understand molecular genetic background of other epileptic syndrome