Purpose: To analyse autosomal dominant gene mutation hot spots in a four-generation Chinese congenital cataract pedigree.
Methods: Nineteen family members of the pedigree (including eight affected and eleven unaffected individuals) were enrolled into the study with informed consent. The eight affected individuals underwent a full ophthalmologic and general examination to rude out any concomitant disorders. The eleven unaffected individuals only underwent ophthalmologic examination. Blood samples were taken from the nineteen subjects for genomic DNA preparation. Seventeen distinct loci on ten different genes (including CRYAA, CRYAB, CRYBA1/A3, CRYGD, GJA8, CRYGC, CRYBB2, GJA3, MIP and BFSP2) have been identified as causes of autosomal dominant congenital cataract (ADCC). Polymerase chain reaction (PCR) amplification of ten gene segments encompassing seventeen mutation hot spots were carried out in the nineteen subjects of the pedigree. Sequences and analysis of PCR products were then performed to detect corresponding mutations.
Result: No mutation was found on the seventeen autosomal dominant mutation hot spots in all nineteen subjects.
Conclusion: Preliminarily exclude the association of the seventeen published autosomal dominant mutation hot spots with ADCC in this family.