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BioMed Research International
Volume 2018, Article ID 3103986, 7 pages
Research Article

Targeted Next-Generation Sequencing of a Deafness Gene Panel (MiamiOtoGenes) Analysis in Families Unsuitable for Linkage Analysis

1Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA
2Department of Otolaryngology-Head and Neck Surgery, Shandong Provincial Hospital Affiliated to Shandong University, Jinan 250021, China
3Applied Physiology Research Center, Isfahan Cardiovascular Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran
4Neuroscience Research Center, Institute of Neuropharmacology, Kerman University of Medical Sciences, Kerman, Iran
5Department of Medical Genetics, Kerman University of Medical Sciences, Kerman, Iran
6Paediatric and Genetic Counselling Center, Kerman Welfare Organization, Kerman, Iran
7Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan, China
8John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA

Correspondence should be addressed to Xuezhong Liu; ude.imaim.dem@uilx

Haiqiong Shang, Denise Yan, and Naeimeh Tayebi contributed equally to this work.

Received 11 August 2017; Revised 28 September 2017; Accepted 1 November 2017; Published 15 January 2018

Academic Editor: Domenico Coviello

Copyright © 2018 Haiqiong Shang et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Hearing loss (HL) is a common sensory disorder in humans with high genetic heterogeneity. To date, over 145 loci have been identified to cause nonsyndromic deafness. Furthermore, there are countless families unsuitable for the conventional linkage analysis. In the present study, we used a custom capture panel (MiamiOtoGenes) to target sequence 180 deafness-associated genes in 5 GJB2 negative deaf probands with autosomal recessive nonsyndromic HL from Iran. In these 5 families, we detected one reported and six novel mutations in 5 different deafness autosomal recessive (DFNB) genes (TRIOBP, LHFPL5, CDH23, PCDH15, and MYO7A). The custom capture panel in our study provided an efficient and comprehensive diagnosis for known deafness genes in small families.