Benign Familial Infantile Convulsions: Mapping of a Novel Locus on Chromosome 2q24 and Evidence for Genetic Heterogeneity

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• 作者：Michela Malacarne ; Elena Gennaro ; Francesca Madia ; Sarah Pozzi ; Daniela Vacca ; Baldassare Barone ; Bernardo dalla Bernardina ; Amedeo Bianchi ; Paolo Bonanni ; Pasquale De Marco ; Antonio Gambardella ; Lucio Giordano ; Maria Luisa Lispi ; Antonino Romeo ; Enrica Santorum ; Francesca Vanadia ; Marilena Vecchi
• 刊名：The American Journal of Human Genetics
• 出版年：2001
• 出版时间：June 2001
• 年：2001
• 卷：68
• 期：6
• 页码：1521-1526
• 全文大小：970 K

文摘

In 1997, a locus for benign familial infantile convulsions (BFIC) was mapped to chromosome 19q. Further data suggested that this locus is not involved in all families with BFIC. In the present report, we studied eight Italian families and mapped a novel BFIC locus within a 0.7-cM interval of chromosome 2q24, between markers D2S399 and D2S2330. A maximum multipoint HLOD score of 6.29 was obtained under the hypothesis of genetic heterogeneity. Furthermore, the clustering of chromosome 2q24–linked families in southern Italy may indicate a recent founder effect. In our series, 40 % of the families are linked to neither chromosome 19q or 2q loci, suggesting that at least three loci are involved in BFIC. This finding is consistent with other autosomal dominant idiopathic epilepsies in which different genes were found to be implicated.