title: Genetic heterogeneity of Meckel syndrome.
abstract: Meckel syndrome (MKS) is a lethal, autosomal recessive condition characterised by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia, fibrotic changes of the liver in the portal area with ductal proliferation, and postaxial polydactyly. Recently, a MKS gene has been mapped to chromosome 17q21-q24 in Finnish families, with no evidence of locus heterogeneity in this population. Here, we report the exclusion of chromosome 17q21-q24 in eight typical MKS families of North African and Middle Eastern ancestry and provide evidence for genetic heterogeneity of this condition.
authors.affiliation: Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, Hôpital des Enfants-Malades, Paris, France.
authors.forename: J
authors.initials: J
authors.lastname: Roume
authors.forename: H W
authors.initials: HW
authors.lastname: Ma
authors.forename: M
authors.initials: M
authors.lastname: Le Merrer
authors.forename: V
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: D
authors.initials: D
authors.lastname: Girlich
authors.forename: E
authors.initials: E
authors.lastname: Genin
authors.forename: A
authors.initials: A
authors.lastname: Munnich
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D004677:Encephalocele / Q000235:genetics; D005260:Female; D014644:Genetic Variation; D006801:Humans; D008297:Male; D010375:Pedigree; D007690:Polycystic Kidney Diseases / Q000235:genetics; D017689:Polydactyly / Q000235:genetics