EPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature review.
Hum Genome Var
; 10(1): 1, 2023 Jan 13.
Article
en En
| MEDLINE
| ID: mdl-36635257
ABSTRACT
Pathogenic variants in the EPS8 gene result in nonsyndromic hearing loss. This gene encodes the EPS8 protein in cochlear inner hair cells and performs critical roles in stimulating actin polymerization and bundling. Thus far, only four pathogenic variations in EPS8 have been described. In this study, we report the fifth pathogenic variant in the EPS8 gene in an Iranian patient with DFNB102. Furthermore, we review literature cases with EPS8 mutations.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Tipo de estudio:
Etiology_studies
Idioma:
En
Revista:
Hum Genome Var
Año:
2023
Tipo del documento:
Article
País de afiliación:
Irán