Aldahmesh Mohammed A, Al-Owain Mohammed, Alqahtani Faisal, Hazzaa Salwa, Alkuraya Fowzan S
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
Mol Vis. 2010 Feb 10;16:207-12.
To describe the finding of a novel calcium binding protein 4 (CABP4) mutation in a family with Leber congenital amaurosis (LCA) phenotype.
Homozygosity mapping was performed in a consanguineous family with four affected members originally referred as cases of LCA. Detailed electroretinographic recordings were obtained.
A novel homozygous single base-pair insertion was identified in all four siblings. The patients had an LCA-like phenotype, including either flat or greatly diminished electroretinographic activity.
This report significantly expands on the phenotype associated with calcium binding protein 4 mutations, which has so far been limited to congenital stationary night blindness, and further demonstrates how molecular data often blur the boundaries between what are believed to be clinically distinct retinal disorders.
描述在一个患有莱伯先天性黑蒙（LCA）表型的家族中发现的一种新型钙结合蛋白4（CABP4）突变。
对一个有四名受影响成员的近亲家族进行纯合性定位分析，这些成员最初被诊断为LCA病例。获取详细的视网膜电图记录。
在所有四个兄弟姐妹中均鉴定出一种新型纯合单碱基对插入。患者具有类似LCA的表型，包括视网膜电图活动平坦或大幅降低。
本报告显著扩展了与钙结合蛋白4突变相关的表型，迄今为止该表型仅限于先天性静止性夜盲，并进一步证明了分子数据如何常常模糊被认为临床上不同的视网膜疾病之间的界限。
