Phaenotypische Charakterisierung einer DFNA6-Familie mit Tieftonschwerhoerigkeit [Phenotypic characterization of a DFNA6 family with low-frequency hearing loss]

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Item Type:	Article
Title:	Phaenotypische Charakterisierung einer DFNA6-Familie mit Tieftonschwerhoerigkeit [Phenotypic characterization of a DFNA6 family with low-frequency hearing loss]
Creators Name:	Toth, T., Kupka, S., Nuernberg, P., Thiele, H., Zenner, H.R., Sziklai, I. and Pfister, M.
Abstract:	Background. Hereditary hearing impairment is a heterogeneous sensory defect with approximately two-thirds of all cases being nonsyndromic. Only two loci (DFNA1 and DFNA6/14/38) are associated with low frequency sensorineural nonsyndromic hearing impairment. DFNA6 was mapped to chromosome 4p16. Recessive mutations in the WFS1 gene are responsible for Wolfram syndrome; missense mutations inherited as an autosomal dominant result in low frequency sensorineural hearing impairment (LFSNHI). Patients and methods. In this study we analyzed the phenotype of a large Hungarian family with LFSNHI and linkage to DFNA6. The family contains 14 affected persons. Results and conclusion. In general, these patients show a postlingual, sensorineural, bilateral, symmetric, nonsyndromic low frequency hearing impairment with a slow progression. This impairment is accompanied by normal vision and normal vestibular responses.
Keywords:	DFNA6, Low Frequency Heriditary Impairment, WFS1 Phenotype
Source:	HNO
ISSN:	0017-6192
Publisher:	Springer
Volume:	52
Number:	2
Page Range:	132-136
Date:	February 2004
Official Publication:	https://doi.org/10.1007/s00106-003-0912-0
PubMed:	View item in PubMed

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