Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean cataracts - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue Ophthalmic Genetics Année : 2002

Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean cataracts

Résumé

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 b-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.
Fichier principal
Vignette du fichier
Hilal 2002 OG heterogeneity congenital cataract-Proof.pdf (175.9 Ko) Télécharger le fichier
Origine : Fichiers éditeurs autorisés sur une archive ouverte

Dates et versions

hal-03086816 , version 1 (17-11-2021)

Identifiants

  • HAL Id : hal-03086816 , version 1

Citer

Latifa Hilal, Emeline Nandrot, Mohamed Belmekki, Siham El Bacha, Mohamed Chefchaouni, et al.. Evidence of clinical and genetic heterogeneity in autosomal dominant congenital cerulean cataracts. Ophthalmic Genetics, 2002. ⟨hal-03086816⟩

Collections

INSERM
12 Consultations
90 Téléchargements

Partager

Gmail Facebook X LinkedIn More