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Clinical observations and molecular variables of patients with hearing loss and incomplete partition type III

Authors :
Byung Yoon Choi
Joo Hyun Park
Jun Ho Lee
Yong Hwi An
Jae Jin Song
Seung Ha Oh
Sun O Chang
Ja Won Koo
Chong Sun Kim
Source :
The Laryngoscope. 126:E123-E128
Publication Year :
2015
Publisher :
Wiley, 2015.

Abstract

Objectives/Hypothesis To analyze the clinical manifestations and genetic features of patients with hearing loss (HL) and incomplete partition (IP) type III malformation, and to evaluate speech performance after cochlear implantation (CI) in these patients. Study Design Individual retrospective cohort study. Methods Of 206 probands with inner ear malformations (IEMs), we constructed a homogeneous cohort of 11 genetically documented IP type III (DFNX2). Mutations affecting POU3F4 were classified as extension (n = 2), truncation (n = 3), large genomic deletion (n = 2), or missense substitution (n = 4). Postoperative outcomes were rigorously assessed with focus on POU3F4 genotypes and compared with 80 age-matched implantees without IEMs. Results HL in our cohort was prelingual in onset irrespective of degree. Serviceable hearing was obtained by wearing conventional hearing aids in three, and eight subjects required CI. No correlation was found between mutation types and initial auditory phenotype. As for the eight cochlear implantees, average Categories of Auditory Perception score was

Details

ISSN :
0023852X
Volume :
126
Database :
OpenAIRE
Journal :
The Laryngoscope
Accession number :
edsair.doi...........6e6a35d5d2456fbc3cc60f38922618f7
Full Text :
https://doi.org/10.1002/lary.25573