INSERM, U968, Paris, France.
Hum Mutat. 2012 Feb;33(2):306-15. doi: 10.1002/humu.21653. Epub 2011 Dec 27.
Mutations in the CRB1 gene are associated with variable phenotypes of severe retinal dystrophies, ranging from leber congenital amaurosis (LCA) to rod-cone dystrophy, also called retinitis pigmentosa (RP). Moreover, retinal dystrophies resulting from CRB1 mutations may be accompanied by specific fundus features: preservation of the para-arteriolar retinal pigment epithelium (PPRPE) and retinal telangiectasia with exudation (also referred to as Coats-like vasculopathy). In this publication, we report seven novel mutations and classify over 150 reported CRB1 sequence variants that were found in more that 240 patients. The data from previous reports were used to analyze a potential correlation between CRB1 variants and the clinical features of respective patients. This meta-analysis suggests that the differential phenotype of patients with CRB1 mutations is due to additional modifying factors rather than particular mutant allele combination.
CRB1 基因突变与严重视网膜营养不良的多种表型相关，从莱伯先天性黑矇（LCA）到杆锥营养不良，也称为色素性视网膜炎（RP）。此外，CRB1 基因突变引起的视网膜营养不良可能伴有特定的眼底特征：para-arteriolar 视网膜色素上皮（PPRPE）保留和视网膜毛细血管扩张伴渗出（也称为 Coats 样血管病变）。在本出版物中，我们报告了七个新的突变，并对超过 240 名患者中发现的 150 多个报道的 CRB1 序列变异进行了分类。先前报告的数据用于分析 CRB1 变异与各自患者临床特征之间的潜在相关性。这项荟萃分析表明，CRB1 突变患者的不同表型是由于额外的修饰因子而不是特定的突变等位基因组合所致。
