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 -