TGFBI gene mutation analysis in a Chinese pedigree of Avellino corneal dystrophy.

ABSTRACT: AIM:To analyze phenotype and genotype of a Chinese pedigree with Avellino corneal dystrophy (ACD). METHODS:Complete ophthalmic examinations were performed on all the family members. Exons of TGFBI were amplified by polymerase chain reaction, sequenced, and compared with a reference database. RESULTS:A single heterozygous G>A (R124H) point mutation was identified in exon 4 of TGFBI in three affected members and two unaffected children who were offsprings of the affected members, but not in the other family members. CONCLUSION:Mutation R124H in TGFBI was identified in this pedigree and appeared to be the disease causing mutation. Atypical phenotype and low penetrance was observed in this pedigree.

SUBMITTER: Xie AR 

PROVIDER: S-EPMC3340809 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature