Aldave Anthony J, Rayner Sylvia A, Kim Brian T, Prechanond Apiradi, Yellore Vivek S
Cornea Service, The Jules Stein Eye Institute, University of California Los Angeles Medical Center, Los Angeles, CA, USA.
Mol Vis. 2006 Feb 27;12:142-6.
To report a novel mutation in the TGFBI gene, c.1761_1763del (p.His572del), associated with a unilateral variant of lattice corneal dystrophy (LCD).
A 63-year-old man presenting with the complaint of decreased vision in one eye was noted to have a unilateral lattice corneal dystrophy. Examination of the patient's wife and two sons, ages 20 and 27 years old, failed to reveal the presence of any corneal opacities. Following the collection of DNA from the patient and his family members, the TGFBI gene was screened for mutations previously associated with lattice corneal dystrophy and any novel coding region changes.
In the affected patient, none of the mutations previously associated with the classic and variant forms of LCD were identified. However, a novel mutation, c.1761_1763del (p.His572del), was identified in exon 13 of TGFBI in the patient and his sons. This mutation was not identified in the patient's wife or in 200 control chromosomes.
The novel TGFBI gene mutation (p.His572del) is associated with a unilateral, late-onset variant of lattice corneal dystrophy. This case highlights the utility of molecular genetic analysis in differentiating corneal dystrophies associated with an atypical phenotype from nondystrophic conditions.
报告转化生长因子β诱导蛋白（TGFBI）基因中的一种新突变，即c.1761_1763del（p.His572del），其与格子状角膜营养不良（LCD）的单侧变异型相关。
一名63岁男性因单眼视力下降前来就诊，被发现患有单侧格子状角膜营养不良。对患者20岁和27岁的妻子及两个儿子进行检查，未发现任何角膜混浊。在收集患者及其家庭成员的DNA后，对TGFBI基因进行筛查，以寻找先前与格子状角膜营养不良相关的突变以及任何新的编码区变化。
在受影响的患者中，未发现先前与经典型和变异型LCD相关的任何突变。然而，在患者及其儿子的TGFBI基因第13外显子中发现了一种新突变，即c.1761_1763del（p.His572del）。在患者的妻子或200条对照染色体中未发现该突变。
新的TGFBI基因突变（p.His572del）与格子状角膜营养不良的单侧迟发型变异型相关。该病例突出了分子遗传学分析在区分与非典型表型相关的角膜营养不良和非营养不良性疾病方面的作用。
