A novel splice site mutation of CRYBA3/A1 gene associated with congenital cataract in a Chinese family.

Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYβA3/A1

PURPOSE To identify the underlying genetic defect in four generations of a Chinese family affected with bilateral congenital polymorphic cataracts. METHODS Family history and clinical data were recorded. The phenotype was documented using slit-lamp photography. Genomic DNA samples were extracted from peripheral blood of family members. Candidate genes were amplified using polymerase chain rea...

A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations

PURPOSE To characterize the disease-causing mutations in a Chinese family with progressive childhood cataracts. METHODS Family history and clinical data were recorded. Direct gene sequencing together with multi-point linkage analysis using microsatellite markers flanking the gene was applied to identify the disease-causing mutation. RESULTS Lens examination in the affected members revealed ...

A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family

A G→T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family

PURPOSE To identify the genetic defect in a five-generation Chinese family with congenital Y-suture cataracts. METHODS A five-generation Chinese family with inherited Y-suture cataract phenotype was recruited. Detailed family history and clinical data of the family were recorded. Candidate genes sequencing was performed to screen out the disease-causing mutation. RESULTS The congenital cata...

A novel T→G splice site mutation of CRYBA1/A3 associated with autosomal dominant nuclear cataracts in a Chinese family

PURPOSE The purpose of this study was to identify the disease-causing mutation and the molecular phenotype that are responsible for the presence of an autosomal dominant congenital nuclear cataract disease in a Chinese family. METHODS The family history and clinical data were recorded. The patients were given a physical examination and their blood samples were collected for DNA extraction. Di...