Genetic heterogeneity of Meckel syndrome.
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.
Roume
J
J
Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, Hôpital des Enfants-Malades, Paris, France.
Ma
H W
HW
Le Merrer
M
M
Cormier-Daire
V
V
Girlich
D
D
Genin
E
E
Munnich
A
A
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