Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family-Reference-Cited by-同舟云学术

Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family

Published:2017-10-17 Issue:1 Volume:82 Page:23-34
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Sampaio‐Silva Juliana¹,Batissoco Ana Carla¹,Jesus‐Santos Rafaela¹,Abath‐Neto Osório²,Scarpelli Luciano Cesar³,Nishimura Patricia Yoshie³,Galindo Layla Testa³,Bento Ricardo Ferreira¹,Oiticica Jeanne¹,Lezirovitz Karina¹^ORCID

Affiliation:

1. Laboratório de Otorrinolaringologia/LIM32 Hospital das Clinicas HCFMUSP Faculdade de Medicina Universidade de Sao Paulo Sao Paulo SP Brasil

2. Departamento de Neurologia Faculdade de Medicina FMUSP Universidade de Sao Paulo Sao Paulo SP Brasil

3. Setor de Biologia Molecular Grupo DASA – Diagnósticos da América Barueri SP Brasil

Funder

Fundação de Amparo à Pesquisa do Estado de São Paulo

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ahg.12213

Reference56 articles.

1. Prevalence of the A1555G (12S rRNA) and tRNA Ser(UCN) mitochondrial mutations in hearing-impaired Brazilian patients

2. Mutations of MYO6 Are Associated with Recessive Deafness, DFNB37

3. Screening for mutations in the GJB3 gene in Brazilian patients with nonsyndromic deafness;Alexandrino F.;J Appl Genet,2004

4. Analysis of mitochondrial alterations in Brazilian patients with sensorineural hearing loss using MALDI-TOF mass spectrometry

5. The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells

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