Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family.
BMC Ophthalmol
; 21(1): 401, 2021 Nov 20.
Article
em En
| MEDLINE
| ID: mdl-34800980
ABSTRACT
BACKGROUND:
Cone-rod dystrophy (CORD) is a group of inherited retinal dystrophies, characterized by decreased visual acuity, color vision defects, photophobia, and decreased sensitivity in the central visual field. Our study has identified a novel pathogenic variant associated with X-linked cone-rod dystrophy (XLCORD) in a Chinese family.METHODS:
All six family members, including the proband, affected siblings, cousins and female carriers, have underwent thorough ophthalmic examinations. The whole exome sequencing was performed for the proband, followed by Sanger sequencing for spilt-sample validation. A mammalian expression vector (AAV-MCS) with mutated retinitis pigmentosa GTPase regulator (RPGR) sequence was expressed in HEK293 T cells. The mutated protein was verified by Western blotting and immunohistochemistry.RESULTS:
A novel mutation in the RPGR gene (c.2383G > T, p.E795X) is identified to be responsible for CORD pathogenesis.CONCLUSIONS:
Our findings have expanded the spectrum of CORD-associated mutations in RPGR gene and serve as a basis for genetic diagnosis for X-linked CORD.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Retinose Pigmentar
/
Distrofias de Cones e Bastonetes
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Animals
/
Female
/
Humans
País/Região como assunto:
Asia
Idioma:
En
Revista:
BMC Ophthalmol
Assunto da revista:
OFTALMOLOGIA
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
China