Mehta Jodhbir S, Vithana Eranga N, Tan Donald T H, Yong Victor H K, Yam Gary H F, Law Ricky W K, Chong Wesley G W, Pang Calvin P, Aung Tin
Singapore Eye Research Institute, 11 Third Hospital Avenue, Singapore.
Invest Ophthalmol Vis Sci. 2008 Jan;49(1):184-8. doi: 10.1167/iovs.07-0847.
Because the endothelial (posterior) corneal dystrophies share common pathologic features and result from primary endothelial dysfunction, it is possible that a proportion of them could be clinical manifestations of different mutations of the same gene. The aim of our study was to determine whether mutations of the TCF8 gene, recently implicated in posterior polymorphous dystrophy, may also play a role in the development of the more common Fuchs endothelial corneal dystrophy (FECD).
Genomic DNA was extracted from leukocytes of peripheral blood, and the nine exons of the TCF8 gene were PCR amplified and subjected to bidirectional sequencing and analysis. Samples from 74 unrelated Chinese patients (55 women, 19 men) with a diagnosis of late-onset FECD and 93 age- and race-matched controls were studied.
The affected probands ranged in age from 52 to 91 years (mean age, 65.1 years); 8 had familial FECD and 66 had sporadic FECD. The authors found two mutations in the coding region of the TCF8 gene: a novel missense mutation in one patient c.2087A>G in exon 7 (Asn696Ser) and a silent mutation in exon 2 c.192T>C (D64D).
The identification of a novel missense mutation in only one of the patients implied that TCF8 does not play a significant role in the pathogenesis of FECD in this Chinese population.
由于内皮（后）角膜营养不良具有共同的病理特征且由原发性内皮功能障碍引起，因此其中一部分可能是同一基因不同突变的临床表现。我们研究的目的是确定最近与后多形性营养不良有关的TCF8基因的突变是否也在更常见的富克斯内皮角膜营养不良（FECD）的发病中起作用。
从外周血白细胞中提取基因组DNA，对TCF8基因的9个外显子进行PCR扩增，并进行双向测序和分析。研究了74例诊断为迟发性FECD的无关中国患者（55名女性，19名男性）和93名年龄及种族匹配的对照的样本。
受影响的先证者年龄在52至91岁之间（平均年龄65.1岁）；8例有家族性FECD，66例有散发性FECD。作者在TCF8基因的编码区发现了两个突变：1例患者外显子7中的一个新的错义突变c.2087A>G（Asn696Ser）和外显子2中的一个沉默突变c.192T>C（D64D）。
仅在1例患者中发现新的错义突变，这表明TCF8在该中国人群FECD的发病机制中不发挥重要作用。
