Premium
No Evidence of a Major Locus for Benign Familial Infantile Convulsions on Chromosome 19q12‐q13.1
Author(s) -
Gennaro Elena,
Malacarne Michela,
Carbone Ilaria,
Riggio Maria Concetta,
Bianchi Amedeo,
Bonanni Paolo,
Boniver Clementina,
Bernardina Bernardo Dalla,
Marco Pasquale,
Giordano Lucio,
Guerrini Renzo,
Santorum Enrica,
Sebastianelli Rosella,
Vecchi Marilena,
Veggiotti Pierangelo,
Vigevano Federico,
Bricarelli Franca Dagna,
Zara Federico
Publication year - 1999
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/j.1528-1157.1999.tb01601.x
Subject(s) - locus (genetics) , genetics , medicine , pediatrics , biology , gene
Summary:Purpose: A locus for benign familial convulsions (BFICs) has been recently mapped on chromosome 19q12–13.1 by studying five families of Italian descent. The main goal of this study was to investigate the role of this locus in a set of seven newly identified families with at least three affected cases. Methods: Five polymorphic microsatellite markers covering the BFIC locus on chromosome 19q have been typed, and parametric linkage analysis has been performed to analyze the segregation of the BFIC locus within our families. Results: Cumulative 2‐point lod scores and multipoint analysis showed no evidence of linkage between chromosome 19 markers and the BFIC phenotype. The analysis of family‐specific 2‐point lod scores and haplotypes, however, indicated the presence of linkage to chromosome 19q in a single family, suggesting genetic heterogeneity within our family sample. Conclusions: Our study demonstrates that the previously reported BFIC locus on chromosome 19q12–13.1 is not a major locus for BFICs. We suggest that genetic heterogeneity may have generated our discordant linkage findings, as it was reported in benign familial neonatal convulsions, a related idiopathic mendelian syndrome.