Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy |
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| Authors: | Long Yan Gu Yang-Shun Han Wei Li Xiu-Yi Yu Ping Qi Ming |
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| Institution: | (1) Department of Ophthalmology, University of Tuebingen, Schleichstr 12–16, 72076 Tuebingen, Germany;(2) Department of Ophthalmology, Freiburg University, Freiburg, Germany;(3) Division of Medical Genetics, CHUV, Lausanne, Switzerland;(4) Department of Ophthalmology, Bonn University, Bonn, Germany |
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| Abstract: | In this paper, we report the clinical and molecular features of the distinct TGFBI (human transforming growth factor β-induced, OMIM No. 601692) gene-linked corneal dystrophy. Altogether, five pedigrees and
ten unrelated individuals diagnosed as corneal dystrophy were recruited. Peripheral venous DNA was extracted, and then amplified
by polymerase chain reaction (PCR) and scanned for mutation by single-stranded conformation polymorphism (SSCP). Direct DNA
sequencing was used to analyze the mutations of the TGFBI gene. In our study, thirty patients from five pedigrees and ten sporadic patients were diagnosed as four TGFBI gene-linked corneal dystrophies of granular corneal dystrophy type I (GGCD I), Avellino corneal dystrophy (ACD), lattice
corneal dystrophy type I (LCD I), and lattice corneal dystrophy type IIIA (LCD IIIA), and in total, seven disease-causing
mutations, namely R555W, A546D, A546T, and T538P mutations in exon 12, R124H and R124C mutations in exon 4, and P501T mutation
in exon 11, were identified, while four polymorphisms of V327V, L472L, F540F, and 1665-1666insC were screened in exons 8,11,
and 12. The study ascertained the tight genotype-phenotype relationship and confirmed the clinical and genetic features of
four TGFBI gene-linked corneal dystrophies. |
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| Keywords: | TGFBI gene Corneal dystrophy Genotype Phenotype Mutation |
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