Homozygous females for a X-linked RPGR-ORF15 mutation in an Iranian family with retinitis pigmentosa.
Exp Eye Res
; 211: 108714, 2021 10.
Article
en En
| MEDLINE
| ID: mdl-34390733
ABSTRACT
Mutations in Retinitis pigmentosa GTPase regulator gene (RPGR) are the most common cause of X-linked retinitis pigmentosa (RP). Almost 60% of disease-causing RPGR mutations are located in ORF-15 region which cannot be detected by Next Generation Sequencing (NGS) due to the existence of highly repetitive regions. An Iranian family with a priori diagnosis of autosomal dominant RP was studied by Sanger sequencing of ORF15 of RPGR gene after an inconclusive NGS result. A frameshift two-base-pair deletion (c.2323_2324del, p.Arg775Glufs*59) in this region was segregating in both affected hemizygous males and affected homozygous females. To our knowledge, this is the first example of homozygous females for RPGR-ORF15 mutations.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Retinitis Pigmentosa
/
Sistemas de Lectura Abierta
/
Enfermedades Genéticas Ligadas al Cromosoma X
/
Genes Ligados a X
/
Proteínas del Ojo
/
Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Child
/
Female
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
Exp Eye Res
Año:
2021
Tipo del documento:
Article
País de afiliación:
Irán