The auditory phenotype of children harboring mutations in the prestin gene.

The auditory phenotype of children harboring mutations in the prestin gene.

Acta Otolaryngol. 2016 Jan 29;:1-5

Authors: Matsunaga T, Morimoto N

Abstract
Conclusion Auditory phenotypes of two children harboring prestin gene mutations were congenital or pre-lingual onset, moderate to profound, slowly progressive or non-progressive, and audiograms with either flat configuration or prominently elevated thresholds at middle and high frequencies. Objectives Despite the essential role of the prestin gene in hearing, only one mutation in two families and a missense variant in a family had been reported previously before our study reporting another family. The purpose of this study was to characterize auditory phenotypes in children recently found to harbor novel mutations in the prestin gene. Methods The subjects were two sisters with bilateral sensorineural hearing loss who were compound heterozygotes for c.209G > A (p.W70X) and c.390A > C (p.R130S) mutations in the prestin gene. Clinical history and auditory test results were collected and analyzed. Results Hearing loss was present from birth in the younger sister and occurred before 6 years of age in the elder sister. The degree of hearing loss was profound in the elder sister with little progression, and moderate in the younger sister with no progression. The audiogram of the elder sister showed prominently elevated thresholds at middle and high frequencies, while that of the younger sister demonstrated a flat configuration.

PMID: 26824437 [PubMed - as supplied by publisher]

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