Hashmi Jamil Amjad, Albarry Maan Abdullah, Almatrafi Ahmed M, Albalawi Alia M, Mahmood Amer, Basit Sulman
Center for Genetics and Inherited Diseases, Taibah University Almadinah, Saudi Arabia.
Department of Ophthalmology, College of Medicine, Taibah University Almadinah, Saudi Arabia.
Congenit Anom (Kyoto). 2018 Jan;58(1):10-15. doi: 10.1111/cga.12225. Epub 2017 May 28.
Retinitis pigmentosa (RP) is a group of inherited progressive retinal dystrophies (RD) and is characterized by photoreceptor degeneration. RP is clinically and genetically heterogeneous disorder. More than 70 genes are known and, thus, identification of causative genes and mutations in known genes is challenging. This study was designed to identify the underlying genetic defect in a large extended Saudi family with multiple RP affected members. Fundus photography, Optical Coherence Tomography (OCT) and visual field perimetry were performed for affected individuals. Whole exome sequencing was used to detect the underlying genetic defect in a large family with 12 affected individuals showing autosomal recessive isolated RP. WES data analysis identified a novel insertion mutation in the EYS (eyes shut homolog) gene (c.910_911insT; p.Trp304LeufsTer8). Sanger sequencing validates the variant discovered through exome in all 12 affected individuals and showed that this mutation is segregating with RP phenotype in an autosomal recessive manner in 51 individuals of the family tested here. Our study expands the mutation spectrum of EYS gene in RP patients and extends the body of evidence that supports the importance of EYS gene in eye development.
视网膜色素变性（RP）是一组遗传性进行性视网膜营养不良（RD），其特征是光感受器退化。RP是一种临床和遗传异质性疾病。已知有70多个基因，因此，确定致病基因和已知基因中的突变具有挑战性。本研究旨在确定一个有多个RP患者的沙特大家族潜在的遗传缺陷。对受影响个体进行了眼底照相、光学相干断层扫描（OCT）和视野检查。全外显子组测序用于检测一个有12名受影响个体的大家族中潜在的遗传缺陷，这些个体表现为常染色体隐性孤立性RP。全外显子组测序数据分析在EYS（闭眼同源物）基因中发现了一个新的插入突变（c.910_911insT；p.Trp304LeufsTer8）。桑格测序验证了在所有12名受影响个体中通过外显子组发现的变异，并表明该突变在此处测试的该家族的51名个体中以常染色体隐性方式与RP表型分离。我们的研究扩展了RP患者中EYS基因的突变谱，并扩展了支持EYS基因在眼睛发育中重要性的证据。
