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Disease Markers
Volume 2018 (2018), Article ID 5298057, 9 pages
Research Article

Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique

1Department of Otorhinolaryngology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830054, China
2Medical Genetics Center, The First Affiliated Hospital, Army Medical University, Chongqing 400038, China
3Department of Otorhinolaryngology, The First People’s Hospital, Kashi Municipality, Xinjiang 844000, China

Correspondence should be addressed to Hua Zhang and Huijun Yuan

Received 15 June 2017; Revised 28 August 2017; Accepted 28 September 2017; Published 5 March 2018

Academic Editor: Silvia Angeletti

Copyright © 2018 Yu Chen 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.


We aim to identify the mutations of deafness genes using massively parallel DNA sequencing in the 12 Uyghur families. SNPscan method was used to screen against the 124 sites in the common deafness genes in probands. Subjects with SNPscan negativity were subject to massively parallel DNA sequencing for the sequencing of 97 genes known to be responsible for hearing loss. Eight families (66.7%) showed biallelic mutations in probands, including MYO15A mutation (6892C>T in J02 family, 9514C>T/7894G>T in J07 family, and 9514C>T in J16 family), MYO7A mutation (1258A>T in J03 family), TMC1 mutation (773G>A in J09 family and 1247T>G/1312G>A in J11 family), and PCDH15 mutation (4658delT in J08 and J13 families). Six novel types of mutation were identified including 6892C>T, 9514C>T/7894G>T, and 9514C>T in MYO15A gene, 1258A>T in MYO7A, 773G>A in TMC1, and 4658delT in PCDH15. The ratio of nonsense mutation and frameshift mutation was comparatively high. All these indicated that the mutation types reported in this study were rare. In conclusion, rare deafness genes were identified in the Uyghur families using massively parallel DNA sequencing, part of which were suggested to be related to the pathogenesis of the disease.