Andermann syndrome in an Algerian family: suggestion of phenotypic and genetic homogeneity

Andermann syndrome or Agenesis of the Corpus Callosum with Polyneuropathy ( MIM 218000) is an autosomal recessive disease almost exclusively found in Q uebec. Only few cases have been reported in other populations. The locus fo r Andermann syndrome was assigned to chromosome 15q13-q15 in French Canadia n families. We performed a haplotype analysis with two markers of this chro mosomal region in an Algerian consanguineous family with two affected sibs. The children were homozygous for both markers, suggesting genetic homogene ity in Andermann syndrome.