Analysis of TGFBI gene mutation in a Chinese family affected with Reis-Bucklers corneal dystrophy.
- VernacularTitle:一个Reis-Bücklers角膜营养不良家系的TGFBI基因突变分析
- Author:
Tao GUAN
1
;
Lingjie ZHANG
;
Dejian XU
;
Haijian WU
;
Libin ZHENG
Author Information
- Publication Type:Journal Article
- MeSH: Corneal Dystrophies, Hereditary; etiology; genetics; Female; Humans; Male; Mutation; Sequence Analysis, DNA; Transforming Growth Factor beta1; genetics
- From: Chinese Journal of Medical Genetics 2017;34(5):629-632
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze the clinical features and TGFBI gene mutation in a Chinese family affected with Reis-Bucklers corneal dystrophy.
METHODSGenomic DNA was extracted from 53 members including 9 patients from the family. The 17 exons and splice region of introns of the TGFBI gene were amplified by PCR and directly sequenced. All family members were subjected to ophthalmologic examination.
RESULTSA heterozygous mutation (R124L) was found in exon 4 of the TGFBI gene among all patients from the family. The same mutation was not found among unaffected family members. The inheritance pattern of the family was identified as autosomal dominant, and the Reis-Bucklers corneal dystrophy in the family was diagnosed as the geographic type.
CONCLUSIONThe R124L mutation of the TGFBI gene probably underlies the pathogenesis of Reis-Bucklers corneal dystrophy in this Chinese family. Molecular genetic approach is useful for the proper diagnosis of this type of corneal dystrophy.
