Clinical Genetics
Analysis of a patient with early-onset retinitis pigmentosa due to novel variants of CRB1 gene
Yi Ming, Tao Dachang, Yang Yuan, Liu Yunqiang
Published 2023-09-10
Cite as Chin J Med Genet, 2023, 40(9): 1160-1164. DOI: 10.3760/cma.j.cn511374-20220629-00440
Abstract
ObjectiveTo explore the genetic basis for a patient with early-onset retinitis pigmentosa (RP).
MethodsA patient who had presented at the West China Hospital of Sichuan University on March 10, 2022 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.
ResultsThe 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).
ConclusionThe 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.
Key words:
Retinitis pigmentosa; CRB1 gene; Whole exome sequencing
Contributor Information
Yi Ming
Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China
Tao Dachang
Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China
Yang Yuan
Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China
Liu Yunqiang
Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China
