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TGFBI gene mutation analysis in a Chinese pedigree of Avellino corneal dystrophy
Ai-Rui Xie1, Su-Ping Cai, Yin Yang
1Ophthalmic Laboratories & Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China.
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.
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