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 language | English |
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Pages (from-to) | 51-62 |
Number of pages | 12 |
Journal | Audiology and Neuro-Otology |
Volume | 9 |
Issue number | 1 |
DOIs | |
Publication status | Published - 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