Identification of a novel homozygous variant in the CNGA1 gene in a Chinese family with autosomal recessive retinitis pigmentosa
Identification of a novel homozygous variant in the CNGA1 gene in a Chinese family with autosomal recessive retinitis pigmentosa
复制标题
常染色体隐性遗传色素性视网膜炎中国家系中 CNGA1 基因新纯合变异的鉴定
DOI：
10.3892/mmr.2020.11331
复制
发表时间：
2020-09-01
影响因子：
3.4
通讯作者：
Zhang，Houbin
中科院分区：
文献类型：
--
作者：
Wang，Le;Zou，Tongdan;Zhang，Houbin
视网膜色素变性(RP)是一组复杂的遗传性视网膜营养不良。尽管>；60个基因已被确认与非综合征型RP有关，但在许多RP病例中，确切的遗传变异仍然难以捉摸。本研究收集了一个常染色体隐性遗传的中国人常染色体隐性遗传RP家系，包括7名成员，其中1名患者和6名正常个体。对先证者和先证者未受影响的女儿进行了全面的眼科检查。从外周血中提取基因组DNA。对患病个体进行全外显子组测序。对候选致病变异体进行Sanger直接测序验证。患者出现典型的RP临床症状。在患者中发现了环核苷酸门控通道亚单位α1基因的一个新的纯合子突变c.265delC(p.L89Ffs*3)。这种纯合子变异在其他未受影响的家庭成员和600名种族匹配的健康对照中缺失。该变异体以常染色体隐性遗传方式与疾病表型共分离。
Retinitis pigmentosa (RP) is a complex group of hereditary retinal dystrophies. Although >60 genes have been identified to be associated with non-syndromic RP, the exact genetic variant remains elusive in numerous cases of RP. In the present study, a Chinese pedigree affected by RP with autosomal recessive inheritance, including a total of seven members with one affected patient and six unaffected individuals, was recruited. Comprehensive ophthalmic examinations were performed on the proband and the proband's unaffected daughter. Genomic DNA was extracted from peripheral blood. Whole-exome sequencing (WES) was performed for the affected individual. The candidate pathogenic variant was verified by direct Sanger sequencing. The affected individual presented with classical clinical symptoms of RP. A novel homozygous variant, c.265delC (p.L89Ffs*3) in the cyclic nucleotide-gated channel subunit α 1 gene was identified in the affected patient. This homozygous variant was absent in other unaffected family members and 600 ethnicity-matched healthy controls. The variant was co-segregated with the disease phenotype in an autosomal recessive manner.