Open Access

Identification of a novel compound heterozygous CYP4V2 variant in a patient with autosomal recessive retinitis pigmentosa

  • Authors:
    • Tongdan Zou
    • Ting Wang
    • Fangyuan Zhen
    • Shuqian Dong
    • Bo Gong
    • Houbin Zhang
  • View Affiliations

  • Published online on: March 14, 2022     https://doi.org/10.3892/br.2022.1523
  • Article Number: 40
  • Copyright: © Zou et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

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.
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May-2022
Volume 16 Issue 5

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Spandidos Publications style
Zou T, Wang T, Zhen F, Dong S, Gong B and Zhang H: Identification of a novel compound heterozygous <em>CYP4V2</em> variant in a patient with autosomal recessive retinitis pigmentosa. Biomed Rep 16: 40, 2022.
APA
Zou, T., Wang, T., Zhen, F., Dong, S., Gong, B., & Zhang, H. (2022). Identification of a novel compound heterozygous <em>CYP4V2</em> variant in a patient with autosomal recessive retinitis pigmentosa. Biomedical Reports, 16, 40. https://doi.org/10.3892/br.2022.1523
MLA
Zou, T., Wang, T., Zhen, F., Dong, S., Gong, B., Zhang, H."Identification of a novel compound heterozygous <em>CYP4V2</em> variant in a patient with autosomal recessive retinitis pigmentosa". Biomedical Reports 16.5 (2022): 40.
Chicago
Zou, T., Wang, T., Zhen, F., Dong, S., Gong, B., Zhang, H."Identification of a novel compound heterozygous <em>CYP4V2</em> variant in a patient with autosomal recessive retinitis pigmentosa". Biomedical Reports 16, no. 5 (2022): 40. https://doi.org/10.3892/br.2022.1523