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CLC number: R77

On-line Access: 2011-04-06

Received: 2010-04-27

Revision Accepted: 2010-10-26

Crosschecked: 2011-02-28

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Journal of Zhejiang University SCIENCE B 2011 Vol.12 No.4 P.287-292


Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy

Author(s):  Yan Long, Yang-shun Gu, Wei Han, Xiu-yi Li, Ping Yu, Ming Qi

Affiliation(s):  Department of Ophthalmology, the First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310003, China, Department of Medical Genetics, School of Medicine, Zhejiang University, Hangzhou 310029, China

Corresponding email(s):   guyangshun_1@hotmail.com

Key Words:  TGFBI gene, Corneal dystrophy, Genotype, Phenotype, Mutation

Yan Long, Yang-shun Gu, Wei Han, Xiu-yi Li, Ping Yu, Ming Qi. Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy[J]. Journal of Zhejiang University Science B, 2011, 12(4): 287-292.

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publisher="Zhejiang University Press & Springer",

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%T Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy
%A Yan Long
%A Yang-shun Gu
%A Wei Han
%A Xiu-yi Li
%A Ping Yu
%A Ming Qi
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%DOI 10.1631/jzus.B1000154

T1 - Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy
A1 - Yan Long
A1 - Yang-shun Gu
A1 - Wei Han
A1 - Xiu-yi Li
A1 - Ping Yu
A1 - Ming Qi
J0 - Journal of Zhejiang University Science B
VL - 12
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EP - 292
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PB - Zhejiang University Press & Springer
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DOI - 10.1631/jzus.B1000154

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.

Darkslateblue:Affiliate; Royal Blue:Author; Turquoise:Article


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