title: [Andermann syndrome in an Algerian family: suggestion of phenotype and genetic homogeneity].
abstract: Andermann syndrome or Agenesis of the Corpus Callosum with Polyneuropathy (MIM 218000) is an autosomal recessive disease almost exclusively found in Québec. Only few cases have been reported in other populations. The locus for Andermann syndrome was assigned to chromosome 15q13-q15 in French Canadian families. We performed a haplotype analysis with two markers of this chromosomal region in an Algerian consanguineous family with two affected sibs. The children were homozygous for both markers, suggesting genetic homogeneity in Andermann syndrome.
authors.affiliation: Fédération de Neurologie, Hôpital de la Salpétrière, 47 Boulevard de l'Hôpital, 75013 Paris, France.
authors.forename: G
authors.initials: G
authors.lastname: Lesca
authors.forename: I
authors.initials: I
authors.lastname: Cournu-Rebeix
authors.forename: A
authors.initials: A
authors.lastname: Azoulay-Cayla
authors.forename: O
authors.initials: O
authors.lastname: Lyon-Caen
authors.forename: A
authors.initials: A
authors.lastname: Barois
authors.forename: O
authors.initials: O
authors.lastname: Dulac
authors.forename: B
authors.initials: B
authors.lastname: Fontaine
mesh_terms: D000293:Adolescent; D000328:Adult; D061085:Agenesis of Corpus Callosum; D000462:Algeria; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002884:Chromosomes, Human, Pair 15; D003241:Consanguinity; D005006:Ethnicity / Q000235:genetics*; D005500:Follow-Up Studies; D005808:Genes, Recessive / Q000235:genetics*; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011792:Quebec; D013577:Syndrome