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Investigation of MYO15A and MYO7A Mutations in Iranian Patients with Nonsyndromic Hearing Loss.
Farjami, Mahsa; Fathi, Mozhgan; Ghasemi, Mohammad Mehdi; Rajati, Mohsen; Eslahi, Atieh; Alimardani, Malihe; Mojarrad, Majid.
Afiliação
  • Farjami M; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Fathi M; Student Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Ghasemi MM; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Rajati M; Student Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Eslahi A; Sinus and Surgical Endoscopic Research Center, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Alimardani M; Ear, Nose and Throat Research Center, Qaem Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Mojarrad M; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
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 and

methods:

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.
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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

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