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Int. J. Mol. Sci. 2017, 18(11), 2246;

The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans

Samsung Genome Institute, Samsung Medical Center, Seoul 06351, Korea
Department of Otorhinolaryngology-Head and Neck Surgery, Wonkwang University College of Medicine, Iksan 54538, Korea
Department of Molecular Cell Biology, School of Medicine, Sungkyunkwan University, Seoul 06351, Korea
Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam 13620, Korea
Sensory Organ Research Institute, Seoul National University Medical Research Center, Seoul 03080, Korea
These authors contributed equally to this work.
Author to whom correspondence should be addressed.
Received: 11 September 2017 / Revised: 19 October 2017 / Accepted: 21 October 2017 / Published: 26 October 2017
(This article belongs to the Section Molecular Pathology, Diagnostics, and Therapeutics)
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We performed targeted re-sequencing to identify the genetic etiology of early-onset postlingual deafness and encountered a frequent TMPRSS3 allele harboring two variants in a cis configuration. We aimed to evaluate the pathogenicity of the allele. Among 88 cochlear implantees with autosomal recessive non-syndromic hearing loss, subjects with GJB2 and SLC26A4 mutations were excluded. Thirty-one probands manifesting early-onset postlingual deafness were sorted. Through targeted re-sequencing, we detected two families with a TMPRSS3 mutant allele containing p.V116M and p.V291L in a cis configuration, p.[p.V116M; p.V291L]. A minor allele frequency was calculated and proteolytic activity was measured. A p.[p.V116M; p.V291L] allele demonstrated a significantly higher frequency compared to normal controls and merited attention due to its high frequency (4.84%, 3/62). The first family showed a novel deleterious splice site variant—c.783-1G>A—in a trans allele, while the other showed homozygosity. The progression to deafness was noted within the first decade, suggesting DFNB10. The proteolytic activity was significantly reduced, confirming the severe pathogenicity. This frequent mutant allele significantly contributes to early-onset postlingual deafness in Koreans. For clinical implication and proper auditory rehabilitation, it is important to pay attention to this allele with a severe pathogenic potential. View Full-Text
Keywords: deafness; TMPRSS3 mutation; DFNB8/10; cochlear implantation; sensorineural hearing loss deafness; TMPRSS3 mutation; DFNB8/10; cochlear implantation; sensorineural hearing loss

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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 (CC BY 4.0).

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Kim, A.R.; Chung, J.; Kim, N.K.D.; Lee, C.; Park, W.-Y.; Oh, D.-Y.; Choi, B.Y. The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans. Int. J. Mol. Sci. 2017, 18, 2246.

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