Investigation of MYO15A and MYO7A Mutations in Iranian Patients with Nonsyndromic Hearing Loss.
Fetal Pediatr Pathol
; 40(2): 121-130, 2021 Apr.
Article
em En
| MEDLINE
| ID: mdl-31997689
ABSTRACT
BACKGROUND:
Hearing loss (HL) is the most common sensory disorder in humans, which affects individuals in both inherited and acquired forms. MYO15A and MYO7A gene mutations have a significant role in the development of deafness. In this study, we assessed the prevalence of MYO15A and MYO7A mutations in one hundred non-relative deaf Iranians. Materials andmethods:
The existence of MYO15A and MYO7A mutations were assessed using the tetra-primer ARMS-PCR method, High Resolution Melting (HRM) and sequencing method.Results:
A heterozygote missense mutation, p.V2135L (c.6403G > T) in the MYO15A gene, was found in a patient using the sequencing method.Conclusion:
These results explain the negligible prevalence of selected mutations among Iranian patients. Identifying common mutations in patients of an ethnic group can reduce the financial costs and time needed for identifying the causes of deafness.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Miosinas
/
Surdez
/
Miosina VIIa
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Humans
País como assunto:
Asia
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article