[Analysis of a patient with early-onset retinitis pigmentosa due to novel variants of CRB1 gene].

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  • Author(s): Yi M;Yi M; Tao D; Yang Y; Liu Y
  • Source:
    Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2023 Sep 10; Vol. 40 (9), pp. 1160-1164.
  • Publication Type:
    English Abstract; Journal Article
  • Language:
    Chinese
  • Additional Information
    • Source:
      Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE
    • Publication Information:
      Publication: <2004->: Chengdu, Sichuan, P.R. China : Sichuan University
      Original Publication: Chengdu : Hua xi yi ke da xue,
    • Subject Terms:
      Genomics* ; Retinitis Pigmentosa*/genetics; Male ; Female ; Humans ; China ; Homozygote ; Mothers ; Eye Proteins/genetics ; Membrane Proteins/genetics ; Nerve Tissue Proteins/genetics
    • Abstract:
      Objective: To explore the genetic basis for a patient with early-onset retinitis pigmentosa (RP).
      Methods: A patient who had presented at the West China Hospital of Sichuan University on March 10, 2020 was selected as the study subject. The patient and his parents were subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing and in silico analysis.
      Results: The patient has featured substantial loss of binocular vision field. Funduscopy revealed characteristic bone spicule-type pigment deposits, as well as attenuated retinal arterioles and pale-appearing optic discs. WES revealed that he has harbored compound missense variants of a RP-associated CRB1 gene, including c.2969T>C (p.Leu990Ser) and c.1816T>C (p.Cys606Arg), which were respectively inherited from his father and mother. Homozygous c.1816T>C (p.Cys606Arg) variant has been identified among RP patients, whilst the c.2969T>C (p.Leu990Ser) variant was unreported previously. Both variants were predicted as likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG).
      Conclusion: The novel compound heterozygous variants of the CRB1 gene probably underlay the early-onset RP in this patient. Above finding has enriched the mutational spectrum of the CRB1 gene.
    • Accession Number:
      0 (CRB1 protein, human)
      0 (Eye Proteins)
      0 (Membrane Proteins)
      0 (Nerve Tissue Proteins)
    • Publication Date:
      Date Created: 20230829 Date Completed: 20230831 Latest Revision: 20230831
    • Publication Date:
      20231215
    • Accession Number:
      10.3760/cma.j.cn511374-20220629-00440
    • Accession Number:
      37643966