Report of a Novel Splicing Mutation in the MYO15A Gene in a Patient With Sensorineural Hearing Loss and Spectrum of the MYO15A Mutations.

ABSTRACT:

Introduction

Autosomal recessive non-syndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder with an approximate incidence of 1.4:1000 in neonates. Mutations in more than 60 genes including the MYO15A gene has been reported in patients affected with ARNSHL. In the present study, we report a novel MYO15A mutation identified by clinical exome sequencing and confirmed by Sanger sequencing in a consanguineous Iranian family with ARNSHL.

Case presentation

A 22-year-old woman with congenital non-syndromic sensorineural hearing loss referred to our medical genetic center. Her parents were consanguineous with F = 1/16 (first cousin), and clinical examination of the patient exclude dysmorphic features. Sanger sequencing of GJB2 and <

SUBMITTER: Akbariazar E 

PROVIDER: S-EPMC6757496 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature