巴西角膜营养不良患者的TGFBI基因突变

TGFBI gene mutations in Brazilian patients with corneal dystrophy.

作者信息

Solari H P, Ventura M P, Perez A B A, Sallum J M F, Burnier M N, Belfort R

机构信息

Department of Ophthalmology, Federal University of São Paulo, São Paulo, Brazil.

出版信息

Eye (Lond). 2007 May;21(5):587-90. doi: 10.1038/sj.eye.6702264. Epub 2006 Jan 27.

DOI:10.1038/sj.eye.6702264

PMID:16440005

Abstract

PURPOSE

To investigate the transforming growth factor beta-induced gene (TGFBI) mutations in Brazilian patients with corneal dystrophy and to evaluate the phenotype-genotype correlation in these patients.

METHODS

A total of 11 unrelated families were studied. The diagnosis of corneal dystrophy was based on clinical and histopathological findings. Genomic DNA was extracted from peripheral blood leucocytes, and exons 4 and 12 of the TGFBIgene were amplified by polymerase chain reaction followed by direct sequencing on both strands.

RESULTS

Five different mutations in the TGFBIgene were found in the probands. We identified the following mutations: lattice corneal dystrophy--R124C and A546T; Reis-Bücklers corneal dystrophy--R555Q and R124L; granular corneal dystrophy--R555W and Avellino dystrophy--R555W. In three of the 11 studied families there was no mutation in exons 4 and 12.

CONCLUSIONS

This is the first report of mutations in the TGFBIgene in a series of Brazilian patients with corneal dystrophy. The findings indicate that TGFBIgene screening should be considered in the diagnosis of corneal dystrophy.

摘要

目的

研究巴西角膜营养不良患者中转化生长因子β诱导基因（TGFBI）的突变情况，并评估这些患者的表型-基因型相关性。

方法

共研究了11个无亲缘关系的家庭。角膜营养不良的诊断基于临床和组织病理学检查结果。从外周血白细胞中提取基因组DNA，通过聚合酶链反应扩增TGFBI基因的第4和12外显子，然后对两条链进行直接测序。

结果

在先证者中发现了TGFBI基因的5种不同突变。我们鉴定出以下突变：格子状角膜营养不良——R124C和A546T；Reis-Bücklers角膜营养不良——R555Q和R124L；颗粒状角膜营养不良——R555W以及Avellino角膜营养不良——R555W。在11个研究家庭中的3个家庭中，第4和12外显子未发现突变。