Analysis of TGFBI gene mutation in a Chinese family with atypical Reis-Buckler corneal dystrophy.
- VernacularTitle:一个非典型Reis-Bückler角膜营养不良家系的TGFBI基因突变研究
- Author:
Dan-dan LI
1
;
Yan-hua QI
;
Qing HAN
;
Hui LIN
;
Li-ming ZHAO
;
Chun-mei ZHANG
Author Information
- Publication Type:Journal Article
- MeSH: Asian Continental Ancestry Group; genetics; Aspartic Acid; genetics; Corneal Dystrophies, Hereditary; genetics; Corneal Stroma; metabolism; Exons; genetics; Extracellular Matrix Proteins; genetics; Family; Female; Genetic Predisposition to Disease; Genotype; Glycine; genetics; Humans; Male; Pedigree; Phenotype; Sequence Analysis, DNA; Transforming Growth Factor beta; genetics
- From: Chinese Journal of Medical Genetics 2009;26(3):245-248
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify the TGFBI gene mutation and the relationship between genotype and phenotype of a Chinese family with atypical Reis-Buckler corneal dystrophy (RBCD).
METHODSFour patients, two non-carrier relatives of the family were enrolled in the present study. In addition to ophthalmologic examinations, PCR amplification and DNA sequencing of exons 4, 11, 12, and 14 of the TGFBI gene were carried out. Exon 14 was also sequenced in 100 healthy controls.
RESULTSA G to A transition at codon 623 in all affected members was identified. This mutation resulted in a substitution of glycine (GGC) to aspartic acid (GAC) at the protein level.None of the healthy family members, or any of the 100 control subjects carried this mutation.
CONCLUSIONThe G623D mutation of the TGFBI gene caused an atypical Reis-Buckler corneal dystrophy in this family. This mutation is reported in Chinese for the first time.
