Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen 518040, China; School of Optometry, Shenzhen University, Shenzhen 518040, China.
Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen 518040, China; School of Optometry, Shenzhen University, Shenzhen 518040, China.
Gene. 2021 Jul 20;790:145698. doi: 10.1016/j.gene.2021.145698. Epub 2021 May 5.
Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal dystrophy which is caused by the mutations of CYP4V2, usually progressing to legal blindness by the 5th or 6th decade of life. Here we identified CYP4V2 compound heterozygous mutations in two female siblings with BCD without subjective symptoms. After 381 pathogenic genes related to retinal diseases were screened by targeted sequence capture array techniques and confirmed by Sanger sequencing, two compound heterozygous mutations in CYP4V2 were found. One was missense mutation c.1198C>T (p.R400C) and the other was frameshift mutation c.802-8_810delinsGC (p.V268_E329del). Optical coherence tomography (OCT) showed that the ellipsoid zone was absent in the macular regions and electroretinogram (ERG) revealed poor cone and rod responses. Compound heterozygous mutations in CYP4V2 are related to the BCD. Our study expands our knowledge of heterogenic phenotypes and genotypes through genetic diagnosis of the BCD patients.
Bietti 结晶性角膜视网膜营养不良 (BCD) 是一种常染色体隐性视网膜营养不良，由 CYP4V2 的突变引起，通常在生命的第 5 或第 6 个十年进展为法定失明。在这里，我们在两名无主观症状的 BCD 女性同胞中鉴定出 CYP4V2 复合杂合突变。通过靶向序列捕获阵列技术筛选了 381 个与视网膜疾病相关的致病基因，并通过 Sanger 测序确认，发现 CYP4V2 存在两个复合杂合突变。一个是错义突变 c.1198C>T (p.R400C)，另一个是移码突变 c.802-8_810delinsGC (p.V268_E329del)。光学相干断层扫描 (OCT) 显示黄斑区椭圆带缺失，视网膜电图 (ERG) 显示锥体细胞和杆体细胞反应不良。CYP4V2 的复合杂合突变与 BCD 有关。通过对 BCD 患者进行基因诊断，我们的研究扩展了对异质表型和基因型的认识。
