Mutations in the MYO15A Gene Are a Significant Cause of Nonsyndromic Hearing Loss-Reference-Cited by-同舟云学术

Mutations in the MYO15A Gene Are a Significant Cause of Nonsyndromic Hearing Loss

Published:2015-03-19 Issue:1_suppl Volume:124 Page:158S-168S
ISSN:0003-4894
Container-title:Annals of Otology, Rhinology & Laryngology
language:en
Short-container-title:Ann Otol Rhinol Laryngol

Author:

Miyagawa Maiko¹²,Nishio Shin-ya¹²,Hattori Mitsuru¹,Moteki Hideaki¹²,Kobayashi Yumiko³,Sato Hiroaki³,Watanabe Tomoo⁴,Naito Yasushi⁵,Oshikawa Chie⁶,Usami Shin-ichi¹²

Affiliation:

1. Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan

2. Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan

3. Department of Otolaryngology-Head & Neck Surgery, Iwate Medical University, Morioka, Iwate, Japan

4. Departments of Otolaryngology, Head and Neck Surgery, Yamagata University Faculty of Medicine, Yamagata, Japan

5. Department of Otolaryngology, Kobe City Medical Center General Hospital, Kobe, Hyogo, Japan

6. Department of Otorhinolaryngology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan

Abstract

Objectives: Screening for MYO15A mutations was carried out using a large cohort to clarify the frequency and clinical characteristics of patients with MYO15A (DFNB3) mutations in a hearing loss population. Methods: Genetic analysis of 63 previously reported deafness genes based on massively parallel DNA sequencing (MPS) in 1120 Japanese hearing loss patients from 53 otorhinolaryngology departments was performed. Detailed clinical features of the patients with MYO15A mutations were then collected and analyzed. Results: Eleven patients from 10 families were found to have compound heterozygosity for MYO15A. Audiograms showed profound or high frequency hearing loss, with some patients showing progressive hearing loss. Age at onset was found to vary from 0 to 14 years, which seemed to be associated with the mutation. Four children underwent bilateral cochlear implantation for congenital hearing loss, with all showing good results. Conclusion: Mutations in the MYO15A gene are a notable cause of nonsyndromic hearing loss. MPS technology successfully detected mutations in relatively rare deafness genes such as MYO15A.

Publisher

SAGE Publications

Subject

General Medicine,Otorhinolaryngology

Link

http://journals.sagepub.com/doi/pdf/10.1177/0003489415575058

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