Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean cataracts.
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.
Hilal
Latifa
L
Laboratoire de Génétique et Biologie Moléculaire de la Faculté des Sciences, Université IBN Tofail, Kénitra, Morocco.
Nandrot
Emeline
E
Belmekki
Mohamed
M
Chefchaouni
Mohamed
M
El Bacha
Siham
S
Benazzouz
Bouchra
B
Hajaji
Yassir
Y
Gribouval
Olivier
O
Dufier
Jean
J
Abitbol
Marc
M
Berraho
Amina
A
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*
D005819:Genetic Markers; D038206:beta-Crystallin B Chain; C113634:beta-crystallin B2