The patients associated with TMPRSS3 mutations are good candidates for electric acoustic stimulation

The Annals of Otology, Rhinology, and Laryngology
Maiko MiyagawaShin-Ichi Usami

Abstract

To clarify the frequency of TMPRSS3 mutations in the hearing loss population, genetic analysis was performed, and detailed clinical characteristics were collected. Optical intervention for patients with TMPRSS3 mutations was also discussed. Massively parallel DNA sequencing (MPS) was applied for the target exon-sequencing of 63 deafness genes in a population of 1120 Japanese hearing loss patients. Hearing loss in 5 patients was found to be caused by compound heterozygous TMPRSS3 mutations, and their detailed clinical features were collected and analyzed. Typically, all of the patients showed ski slope type audiograms and progressive hearing loss. Three of the 5 patients received electric acoustic stimulation (EAS), which showed good results. Further, the onset age was found to vary, and there were some correlations between genotype and phenotype (onset age). MPS is a powerful tool for the identification of rare causative deafness genes, such as TMPRSS3. The present clinical characteristics not only confirmed the findings from previous studies but also provided clinical evidence that EAS is beneficial for patients possessing TMPRSS3 mutations.

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Citations

Oct 27, 2017·International Journal of Molecular Sciences·Ah Reum KimByung Yoon Choi
Oct 28, 2017·Cochlear Implants International·Gunesh RajanPaul Van de Heyning
Nov 3, 2016·Current Opinion in Pediatrics·Christina M Sloan-Heggen, Richard J H Smith
Aug 28, 2019·Laryngoscope Investigative Otolaryngology·Aiden Eliot Shearer, Marlan R Hansen
Oct 28, 2019·Cochlear Implants International·Leslie P Molina-RamirezGraeme C M Black
Feb 7, 2020·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Shin-Ichi UsamiHidekane Yoshimura
Apr 16, 2020·Journal of Clinical Medicine·Romolo Daniele De SiatiNaïma Deggouj
Feb 9, 2021·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Jourdan T HolderRené H Gifford
Apr 23, 2021·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Eric NisenbaumXue Zhong Liu

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Methods Mentioned

BETA
cochlear implant

Software Mentioned

MutationTaster
Torrent Variant Caller
Torrent Mapping Alignment Program
LRT
GERP
PhyloP
ANNOVAR
Polymorphism Phenotyping ( PolyPhen2
Sorting Intolerant Tolerant SIFT

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