Phänotypische charakterisierung einer DFNA6-familie mit tieftonschwerhörigkeit

Translated title of the contribution: Phenotypic characterization of a DFNA6 family showing low-frequency sensorineural hearing impairment

T. Tóth, S. Kupka, P. Nürnberg, H. Thiele, H. P. Zenner, I. Sziklai, M. Pfister

Research output: Contribution to journalArticle

2 Citations (Scopus)

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.

Translated title of the contributionPhenotypic characterization of a DFNA6 family showing low-frequency sensorineural hearing impairment
Original languageGerman
Pages (from-to)132-136
Number of pages5
JournalHNO
Volume52
Issue number2
DOIs
Publication statusPublished - Feb 1 2004

Keywords

  • DFNA6
  • Low frequency heriditary impairment
  • WFS1 phenotype

ASJC Scopus subject areas

  • Otorhinolaryngology

Fingerprint Dive into the research topics of 'Phenotypic characterization of a DFNA6 family showing low-frequency sensorineural hearing impairment'. Together they form a unique fingerprint.

  • Cite this

    Tóth, T., Kupka, S., Nürnberg, P., Thiele, H., Zenner, H. P., Sziklai, I., & Pfister, M. (2004). Phänotypische charakterisierung einer DFNA6-familie mit tieftonschwerhörigkeit. HNO, 52(2), 132-136. https://doi.org/10.1007/s00106-003-0912-0