[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: G Lesca, I Cournu-Rebeix, A Azoulay-Cayla, O Lyon-Caen, A Barois, O Dulac, B Fontaine
• Journal: Revue neurologique (Rev Neurol (Paris)) Vol. 157 Issue 10 Pg. 1279-81 (Oct 2001) ISSN: 0035-3787 [Print] France
• Vernacular Title: Le syndrome d'Andermann dans une famille algérienne: suggestion d'une homogénéité phénotypique et génétique.
• PMID: 11885521 (Publication Type: Case Reports, Journal Article)

Topics

• Adolescent
• Adult
• Agenesis of Corpus Callosum
• Algeria
• Child
• Child, Preschool
• Chromosome Aberrations
• Chromosomes, Human, Pair 15
• Consanguinity
• Ethnicity (genetics)
• Follow-Up Studies
• Genes, Recessive (genetics)
• Hereditary Sensory and Motor Neuropathy (diagnosis, genetics)
• Humans
• Infant
• Infant, Newborn
• Intellectual Disability (genetics)
• Male
• Pedigree
• Phenotype
• Quebec
• Syndrome