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Journal of Zhejiang University SCIENCE B 2011 Vol.12 No.9 P.687-693


Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies

Author(s):  Ya-nan Huo, Yu-feng Yao, Ping Yu

Affiliation(s):  Department of Ophthalmology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou 310016, China, Sir Run Run Shaw Institute of Clinical Medicine, Zhejiang University, Hangzhou 310016, China, Department of Medical Genetics, School of Medicine, Zhejiang University, Hangzhou 310058, China

Corresponding email(s):   srrs_zj@163.com

Key Words:  Transforming growth factor-β, -induced (TGFBI) gene, Carbohydrate sulfotransferase 6 (CHST6) gene, Corneal dystrophy, Mutation

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Ya-nan Huo, Yu-feng Yao, Ping Yu. Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies[J]. Journal of Zhejiang University Science B, 2011, 12(9): 687-693.

@article{title="Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies",
author="Ya-nan Huo, Yu-feng Yao, Ping Yu",
journal="Journal of Zhejiang University Science B",
publisher="Zhejiang University Press & Springer",

%0 Journal Article
%T Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies
%A Ya-nan Huo
%A Yu-feng Yao
%A Ping Yu
%J Journal of Zhejiang University SCIENCE B
%V 12
%N 9
%P 687-693
%@ 1673-1581
%D 2011
%I Zhejiang University Press & Springer
%DOI 10.1631/jzus.B1100011

T1 - Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophies
A1 - Ya-nan Huo
A1 - Yu-feng Yao
A1 - Ping Yu
J0 - Journal of Zhejiang University Science B
VL - 12
IS - 9
SP - 687
EP - 693
%@ 1673-1581
Y1 - 2011
PB - Zhejiang University Press & Springer
ER -
DOI - 10.1631/jzus.B1100011

Objective: To investigate gene mutations associated with three different types of corneal dystrophies (CDs), and to establish a phenotype-genotype correlation. Methods: Two patients with Avellino corneal dystrophy (ACD), four patients with lattice corneal dystrophy type I (LCD I) from one family, and three patients with macular corneal dystrophy type I (MCD I) were subjected to both clinical and genetic examinations. Slit lamp examination was performed for all the subjects to assess their corneal phenotypes. Genomic DNA was extracted from peripheral blood leukocytes. The coding regions of the human transforming growth factor β-induced (TGFBI) gene and carbohydrate sulfotransferase 6 (CHST6) gene were amplified by polymerase chain reaction (PCR) and subjected to direct sequencing. DNA samples from 50 healthy volunteers were used as controls. Results: Clinical examination showed three different phenotypes of CDs. Genetic examination identified that two ACD subjects were associated with homozygous R124H mutation of TGFBI, and four LCD I subjects were all associated with R124C heterozygous mutation. One MCD I subject was associated with a novel S51X homozygous mutation in CHST6, while the other two MCD I subjects harbored a previously reported W232X homozygous mutation. Conclusions: Our study highlights the prevalence of codon 124 mutations in the TGFBI gene among the Chinese ACD and LCD I patients. Moreover, we found a novel mutation among MCD I patients.

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


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