TGFBI gene mutation analysis in a Chinese pedigree of Avellino corneal dystrophy
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Supported by National Natural Science Foundation of China(No.81000370)

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    Abstract:

    AIM: To analyze phenotype and genotype of a Chinese pedigree with Avellino corneal dystrophy (ACD). METHODS: Complete ophthalmic examinations were per- formed 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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Ai-Rui Xie, Su-Ping Cai, Yin Yang, et al. TGFBI gene mutation analysis in a Chinese pedigree of Avellino corneal dystrophy. Int J Ophthalmol, 2011,4(3):275-279

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