TGFBI Gene Mutation Analysis in a Chinese Pedigree of Avellino Corneal Dystrophy

Overview

Journal Int J Ophthalmol

Specialty Ophthalmology

Date 2012 May 4

PMID 22553661

Authors

Ai-Rui Xie

Su-Ping Cai

Yin Yang

Yin-Chuan Fan

Wen-Han Yu

Li-Heng Guo

Qiao-Na Yang

Jin Zhu

Xu-Yang Liu

Affiliations

Soon will be listed here.

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.

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