遺伝症候群と遺伝子治療のジャーナル
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概要

Autosomal Dominant Corneal Dystrophy with TGFBI Mutations: Lessons Learned from a Chinese Pedigree

Anli Shu, Zheng Wei, Yibin Hao, Hai Luo, Fu Tian, Fred G Biddle, Wei Wu, Min Liu and Wei Cao

Corneal dystrophies are rare autosomal dominant genetic diseases with diverse anatomic classification. The complexity of this disease reflects both the heterogeneity of causative gene mutations and the diversity of clinical presentations. Here, we studied and report a four-generation Chinese pedigree with corneal dystrophy, in which the clinical symptoms resemble Meesmann corneal dystrophy without the characteristic gene mutations of either KRT3 or KRT12. Targeted exon sequencing with PCR methods identified an Arg124Cys mutation in the TGFBI gene that concordant with phenotype in all affected individuals. This TGFBI mutation has been associated with multiple subtypes of corneal dystrophy. We reviewed the global reported TGFBI mutations in different ethnic groups and geographically mapped TGFBI mutations previously reported in China. The distribution of TGFBI allelic mutations may assist the clinical diagnosis of the heterogeneous, autosomal dominant corneal dystrophies.