In this study, we report a large Moroccan family with CD. Whole-exome sequencing (WES) was performed in the three affected members who shared a phenotype of corneal dystrophy in different stages of severity. Variant validation and familial segregation were performed by Sanger sequencing in affected sisters and mothers and in two unaffected brothers. Whole-exome sequencing showed a novel heterozygous mutation (c.1772C > A; p.Ser591Tyr) in the TGFBI gene. Clinical examinations demonstrated bilaterally multiple superficial, epithelial and stromal anterior granular opacities in different stages of severity among three patients in this family.
This report describes a novel mutation in the TGFBI gene found in three family members affected by different phenotypic aspects. This mutation is associated with Thiel-Behnke corneal dystrophy; therefore, it could be considered a novel phenotype genotype correlation, which will help in genetic counselling for this family.
在这项研究中,我们报告了一个带CD的摩洛哥大家庭。在三个受影响的成员中进行全外显子组测序(WES),这些成员在不同严重程度的阶段具有角膜营养不良的表型。通过Sanger测序对受影响的姐妹和母亲以及两个未受影响的兄弟进行了变体验证和家族隔离。全外显子组测序显示TGFBI基因中存在新的杂合突变(c.1772C>A;p.Ser591Tyr)。临床检查显示双侧多发浅表,在该家族的三名患者中,上皮和基质前颗粒混浊处于不同严重程度的阶段。
本报告描述了在受不同表型方面影响的三个家族成员中发现的TGFBI基因的新突变。这种突变与Thiel-Behnke角膜营养不良有关;因此,它可以被认为是一种新的表型基因型相关性,这将有助于这个家庭的遗传咨询。