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BioMed Research International
Volume 2017, Article ID 4707315, 8 pages
Research Article

Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment

1Department of Otolaryngology, The General Hospital of the PLA Rocket Force, No. 16 Xinwai Dajie, Beijing 100088, China
2Department of Otolaryngology, Head and Neck Surgery, PLA General Hospital, No. 28 Fuxing Road, Beijing 100853, China
3Department of Otolaryngology, Emory University School of Medicine, 615 Michael Street, Whitehead Biomedical Research Bldg, Rm No. 543, Atlanta, GA 30322, USA

Correspondence should be addressed to Xi Lin; ude.yrome@2nilx and Pu Dai; moc.anis.piv@103upiad

Received 12 October 2016; Revised 3 December 2016; Accepted 20 December 2016; Published 29 January 2017

Academic Editor: Jozef Anné

Copyright © 2017 Xue Gao 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.


Autosomal recessive hearing impairment with postlingual onset is rare. Exceptions are caused by mutations in the TMPRSS3 gene, which can lead to prelingual (DFNB10) as well as postlingual deafness (DFNB8). TMPRSS3 mutations can be classified as mild or severe, and the phenotype is dependent on the combination of TMPRSS3 mutations. The combination of two severe mutations leads to profound hearing impairment with a prelingual onset, whereas severe mutations in combination with milder TMPRSS3 mutations lead to a milder phenotype with postlingual onset. We characterized a Chinese family (number FH1523) with not only prelingual but also postlingual hearing impairment. Three mutations in TMPRSS3, one novel mutation c.36delC [p.(Phe13Serfs12)], and two previously reported pathogenic mutations, c.916G>A (p.Ala306Thr) and c.316C>T (p.Arg106Cys), were identified. Compound heterozygous mutations of p.(Phe13Serfs12) and p.Ala306Thr manifest as prelingual, profound hearing impairment in the patient (IV: 1), whereas the combination of p.Arg106Cys and p.Ala306Thr manifests as postlingual, milder hearing impairment in the patient (II: 2, II: 3, II: 5), suggesting that p.Arg106Cys mutation has a milder effect than p.(Phe13Serfs12). We concluded that different combinations of TMPRSS3 mutations led to different hearing impairment phenotypes (DFNB8/DFNB10) in this family.