Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2.

摘要: PURPOSE: To identify the genetic defect for Coppock-like cataract (CCL) affecting a Swiss family, which was unlinked to chromosome 2q33-35 CCL locus. METHODS: A large family characterized linkage analysis by slit lamp examination or review of drawings made before extraction. The affection status attributed genotyping, and genotyping masked status. Two-point multipoint analyses were performed using MLINK LINKMAP components LINKAGE program package (ver. 5.1), respectively. Mutational candidate genes combination direct cycle sequencing an amplification refractory mutation system assay. RESULTS: Ten individuals affected with phenotype. disease autosomal dominant appeared be fully penetrant. new locus identified on 22q11.2 within 11.67-cM interval (maximum lod score [Zmax] = 4.14; theta 0). CRYBB2 gene disease-causing in exon 6. This sequence change identical that previously described associated cerulean cataract, clinically distinct entity. CONCLUSIONS: phenotype is genetically heterogeneous second 22q11.2, CRYBB2. are two clinical entities same defect. work provides evidence modifier factor influences formation remains identified.