A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3
A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3
复制标题
部分上皮基底膜角膜营养不良患者存在 TGFBI/BIGH3 突变
作者：
S. Boutboul;G. Black;Johnny E Moore;J. Sinton;M. Ménasche;F. Munier;L. Laroche;M. Abitbol;D. Schorderet
上皮基底膜角膜营养不良（EBMD），也称为Cogan微囊性上皮营养不良或图-点-指纹营养不良，是一种常见的双侧上皮营养不良。通常，这种疾病不被认为是遗传性的，尽管有几个常染色体显性遗传的家族被描述。我们报告了两个家庭的分析与常染色体显性模式的遗传，以及分析单一的影响个体；我们在TGFBI/BIGH3基因中发现了两个不同的点突变，这些基因已知与其他角膜营养不良相关。这是首个关于EBMD患者分子突变的报道，它增加了TGFBI/BIGH3基因的突变谱。根据我们的筛选，高达10%的EBMD患者可能在该基因上有突变。植物学报，27(6),2006。©2006 Wiley‐Liss, Inc。
Epithelial basement membrane corneal dystrophy (EBMD), also known as Cogan microcystic epithelial dystrophy or map‐dot‐fingerprint dystrophy, is a common bilateral epithelial dystrophy. Usually, this disease is not considered to be inherited although several families with autosomal dominant inheritance have been described. We report the analysis of two families with an autosomal dominant pattern of inheritance as well as the analysis of single affected individuals; we identified two different point mutations in the TGFBI/BIGH3 genes, genes known to be associated with other corneal dystrophies. This is the first report of a molecular mutation in individuals with EBMD and it increases the spectrum of mutations in the TGFBI/BIGH3 gene. Based on our screening, up to 10% of EBMD patients could have a mutation in this gene. Hum Mutat 27(6), 553–557, 2006. © 2006 Wiley‐Liss, Inc.
TGFBI (BIGH3) 基因外显子 13 内的新突变 (Leu569Arg) 会导致 I 型格子角膜营养不良。
影响因子：
4.2
作者：
Warren,JohnF;Abbott,RichardL;Yoon,MichaelK;Crawford,JBrooks;Spencer,WilliamH;Margolis,ToddP
通讯作者：
Margolis,ToddP
影响因子：
4.4
作者：
Ian Rawe;Q. Zhan;Robert Burrows;Kelly Bennett;Charles Cintron
通讯作者：
Ian Rawe;Q. Zhan;Robert Burrows;Kelly Bennett;Charles Cintron