Exclusive mapping of all known locus linked with autosomal dominant congenital lamellar cataract in a Chinese family / 解放军医学杂志

ABSTRACT

Objective To map the mutation gene of autosomal dominant congenital lamellar cataract in a family pedigree of four generations.Methods A Family with non-syndromic congenital cataract was recruited from the Eye Center of Tongren Hospital affiliated to Capital Medical University.Family history was recorded.Twenty-eight members of the family pedigree(including twelve affected and sixteen unaffected individuals)were enrolled into the study with informed consent.The twelve affected individuals underwent full clinical and ophthalmological examinations to rule out any concomitant disorders.The sixteen unaffected individuals only underwent ophthalmological examination.Blood samples were collected from all the 28 subjects for genomic DNA preparation.Eighteen different genes were previously reported to be associated with non-syndromic autosomal dominant congenital cataract(ADCC).Multiplex polymerase chain reaction(PCR)was carried out with microsatellite markers near to candidate loci related to congenital cataracts.PCR products from each DNA sample were separated on a 6% polyarcylamide gel and analyzed.Exclusion analysis was performed by allele sharing analysis and gene sequencing.Results The clinical phenotype in the family was isolated corroborating autosomal dominant congenital lamellar cataract.No mutation was found in the eighteen genes in all twenty-eight subjects.Eighteen candidate genes were excluded by allele sharing method and gene sequencing.Conclusion All known ADCC loci have been excluded from this family,which further indicates the clinical and genetical heterogeneity of congenital cataract,and an important clue is provided for finding more cataract responsible genes.Further study should be carried out to screen other relevant genes or loci in patients with ADCC.