Analysis of a patient with early-onset retinitis pigmentosa due to novel variants of CRB1 gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1160-1164, 2023.
Artículo
en Chino
| WPRIM
| ID: wpr-1009269
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
China
/
Retinitis Pigmentosa
/
Genómica
/
Proteínas del Ojo
/
Homocigoto
/
Proteínas de la Membrana
/
Madres
/
Proteínas del Tejido Nervioso
Límite:
Femenino
/
Humanos
/
Masculino
País/Región como asunto:
Asia
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2023
Tipo del documento:
Artículo
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