Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutations

RJE Pennings*, PLM Huygen, JMW van den Ouweland, K Cryns, LD Dikkeschei, G Van Camp, CWRJ Cremers

*Corresponding author for this work

    Research output: Contribution to journalArticleAcademicpeer-review

    19 Citations (Scopus)

    Abstract

    This study examined the audiovestibular profile of 11 Wolfram syndrome patients (4 males, 7 females) from 7 families, with identified WFS1 mutations, and the audiometric profile of 17 related heterozygous carriers of WFS1 mutations. Patients with Wolfram syndrome showed a downsloping audiogram and progressive hearing impairment. None of the carriers had sensorineural hearing loss. Two patients with missense (non-inactivating) mutations in WFS1 had normal hearing and mild symptoms of Wolfram syndrome and were excluded from the analyses. Of the identified patients with inactivating WFS1 mutations, 5 female patients were significantly more hearing impaired than four male patients (p <0.05). Female patients showed hearing impairment progressing by 1.5-2.0 dB HL per year for the low frequencies and 4.0-4.5 dB HL per year for the mid and high frequencies. The age of onset (90% phoneme recognition score) was 21 years and the onset level 78 dB HL. The deterioration rate was 4.0% per year and the deterioration gradient 1.4% per dB HL. One of the 6 examined patients had vestibular areflexia. Copyright (C) 2004 S. Karger AG, Basel.

    Original languageEnglish
    Pages (from-to)51-62
    Number of pages12
    JournalAudiology and Neuro-Otology
    Volume9
    Issue number1
    DOIs
    Publication statusPublished - 2004

    Keywords

    • Wolfram syndrome
    • WFS1
    • DIDMOAD
    • genetic hearing impairment
    • DFNA6/14
    • sex-related difference
    • OPTIC ATROPHY
    • TRANSMEMBRANE PROTEIN
    • DIABETES-MELLITUS
    • DIDMOAD SYNDROME
    • GENE
    • FAMILY
    • SCHIZOPHRENIA
    • DFNA2/KCNQ4
    • PHENOTYPE
    • DFNA6/14

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