title: Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean cataracts.
abstract: Autosomal dominant cerulean cataracts (ADCC) have previously been mapped to two loci: one on chromosome 17q24 and the other on chromosome 22q11.2-q12.2, which includes the beta-B2 crystallin (CRYBB2) candidate gene. Using polymorphic markers in these regions (D17S802, D17S836, D17S1806 and CRYBB2, D22S258) for linkage analysis, we excluded these loci in a large Moroccan family presenting with an unusual form of ADCC with early onset of lens opacities and rapid evolution. This finding confirms the clinical and genetic heterogeneity of autosomal dominant congenital cerulean cataracts.
authors.affiliation: Laboratoire de Génétique et Biologie Moléculaire de la Faculté des Sciences, Université IBN Tofail, Kénitra, Morocco.
authors.forename: Latifa
authors.initials: L
authors.lastname: Hilal
authors.forename: Emeline
authors.initials: E
authors.lastname: Nandrot
authors.forename: Mohamed
authors.initials: M
authors.lastname: Belmekki
authors.forename: Mohamed
authors.initials: M
authors.lastname: Chefchaouni
authors.forename: Siham
authors.initials: S
authors.lastname: El Bacha
authors.forename: Bouchra
authors.initials: B
authors.lastname: Benazzouz
authors.forename: Yassir
authors.initials: Y
authors.lastname: Hajaji
authors.forename: Olivier
authors.initials: O
authors.lastname: Gribouval
authors.forename: Jean
authors.initials: J
authors.lastname: Dufier
authors.forename: Marc
authors.initials: M
authors.lastname: Abitbol
authors.forename: Amina
authors.initials: A
authors.lastname: Berraho
mesh_terms: D000328:Adult; D002386:Cataract / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D025063:Chromosome Disorders; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D018740:Genetic Heterogeneity; D008040:Genetic Linkage; D005819:Genetic Markers / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007908:Lens, Crystalline; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D009018:Morocco; D010375:Pedigree; D038206:beta-Crystallin B Chain / Q000031:analogs & derivatives* / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D038206:beta-Crystallin B Chain; C113634:beta-crystallin B2