TY - JOUR AB - Retinitis pigmentosa (RP) belongs to a family of retinal disorders that is characterized by the progressive degeneration of rod and cone photoreceptors. The aim of the present study was to screen for possible disease‑causing genetic variants in a non‑consanguineous Chinese family with non‑syndromic autosomal recessive RP. Whole‑exome sequencing (WES) was performed in samples from the affected individual (the proband) and those from the two children of the proband. A novel compound heterozygous variant of c.C958T (p.R320X) and c.G1355A (p.R452H) in the Cytochrome P450 family 4 subfamily V member 2 (CYP4V2) gene was identified through WES. Subsequently, this variant was validated by direct Sanger sequencing. This compound heterozygous variant was found to be absent from other unaffected family members and 400 ethnically‑matched healthy control individuals. In addition, this compound variant was co‑segregated with the RP phenotype in an autosomal recessive manner. In silico analysis revealed that both c.C958T (p.R320X) and c.G1355A (p.R452H) could compromise the protein function of CYP4V2. These results strongly suggest this compound variant to be a disease‑causing variant, which expands upon the spectrum of currently known CYP4V2 genetic variants associated with retinal diseases. AD - The Key Laboratory for Human Disease Gene Study of Sichuan Province and Institute of Laboratory Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, P.R. China Department of Ophthalmology, The First Affiliated Hospital of Zhengzhou University, Henan Provincial Ophthalmic Hospital, Zhengzhou, Henan 450000, P.R. China AU - Zou,Tongdan AU - Wang,Ting AU - Zhen,Fangyuan AU - Dong,Shuqian AU - Gong,Bo AU - Zhang,Houbin DA - 2022/05/01 DO - 10.3892/br.2022.1523 IS - 5 JO - Biomed Rep KW - Autosomal recessive retinitis pigmentosa Cytochrome P450 family 4 subfamily V member 2 variants whole‑exome sequencing PY - 2022 SN - 2049-9434 2049-9442 SP - 40 ST - Identification of a novel compound heterozygous CYP4V2 variant in a patient with autosomal recessive retinitis pigmentosa T2 - Biomedical Reports TI - Identification of a novel compound heterozygous CYP4V2 variant in a patient with autosomal recessive retinitis pigmentosa UR - https://doi.org/10.3892/br.2022.1523 VL - 16 ER -