Open Access

Identification of a novel homozygous variant in the CNGA1 gene in a Chinese family with autosomal recessive retinitis pigmentosa

  • Authors:
    • Le Wang
    • Tongdan Zou
    • Yongqiong Lin
    • Ling Li
    • Peng Zhang
    • Bo Gong
    • Jilong Hao
    • Houbin Zhang
  • View Affiliations

  • Published online on: July 10, 2020     https://doi.org/10.3892/mmr.2020.11331
  • Pages: 2516-2520
  • Copyright: © Wang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )


Abstract

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.
View Figures
View References

Related Articles

Journal Cover

September-2020
Volume 22 Issue 3

Print ISSN: 1791-2997
Online ISSN:1791-3004

Sign up for eToc alerts

Recommend to Library

Copy and paste a formatted citation
x
Spandidos Publications style
Wang L, Zou T, Lin Y, Li L, Zhang P, Gong B, Hao J and Zhang H: Identification of a novel homozygous variant in the CNGA1 gene in a Chinese family with autosomal recessive retinitis pigmentosa . Mol Med Rep 22: 2516-2520, 2020.
APA
Wang, L., Zou, T., Lin, Y., Li, L., Zhang, P., Gong, B. ... Zhang, H. (2020). Identification of a novel homozygous variant in the CNGA1 gene in a Chinese family with autosomal recessive retinitis pigmentosa . Molecular Medicine Reports, 22, 2516-2520. https://doi.org/10.3892/mmr.2020.11331
MLA
Wang, L., Zou, T., Lin, Y., Li, L., Zhang, P., Gong, B., Hao, J., Zhang, H."Identification of a novel homozygous variant in the CNGA1 gene in a Chinese family with autosomal recessive retinitis pigmentosa ". Molecular Medicine Reports 22.3 (2020): 2516-2520.
Chicago
Wang, L., Zou, T., Lin, Y., Li, L., Zhang, P., Gong, B., Hao, J., Zhang, H."Identification of a novel homozygous variant in the CNGA1 gene in a Chinese family with autosomal recessive retinitis pigmentosa ". Molecular Medicine Reports 22, no. 3 (2020): 2516-2520. https://doi.org/10.3892/mmr.2020.11331