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Hearing Function in Heterozygous Carriers of a Pathogenic GJB2 Gene Mutation

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F13%3A10209821" target="_blank" >RIV/00064203:_____/13:10209821 - isvavai.cz</a>

  • Alternative codes found

    RIV/68378041:_____/13:00395442 RIV/00216208:11130/13:10209821

  • Result on the web

    <a href="http://www.biomed.cas.cz/physiolres/pdf/62/62_323.pdf" target="_blank" >http://www.biomed.cas.cz/physiolres/pdf/62/62_323.pdf</a>

  • DOI - Digital Object Identifier

Alternative languages

  • Result language

    angličtina

  • Original language name

    Hearing Function in Heterozygous Carriers of a Pathogenic GJB2 Gene Mutation

  • Original language description

    The most frequent hereditary hearing loss is caused by mutations in the GJB2 gene coding for the gap junction beta 2 protein Connexin 26 (Cx26). In contrast to many studies performed in patients with bi-allelic mutations, audiometric studies on heterozygotes are sparse and often contradictory. To evaluate hearing function in heterozygous carriers of the GJB2 c.35delG mutation, audiometry over the extended frequency range and the recording of otoacoustic emissions (OAEs), i.e., transient-evoked OAEs (TEOAEs) and distortion product OAEs (DPOAEs), were performed in a group of parents and grandparents of deaf children homozygous for the GJB2 c.35delG mutation. The comparison of audiograms between control and heterozygous subjects was enabled using audiogram normalization for age and sex. Hearing loss, estimated with this procedure, was found to be significantly larger in GJB2 c.35delG heterozygous females in comparison with controls for the frequencies of 8-16 kHz; the deterioration of hea

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

  • CEP classification

    ED - Physiology

  • OECD FORD branch

Result continuities

  • Project

    Result was created during the realization of more than one project. More information in the Projects tab.

  • Continuities

    I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Others

  • Publication year

    2013

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    Physiological Research

  • ISSN

    0862-8408

  • e-ISSN

  • Volume of the periodical

    62

  • Issue of the periodical within the volume

    3

  • Country of publishing house

    CZ - CZECH REPUBLIC

  • Number of pages

    8

  • Pages from-to

    323-330

  • UT code for WoS article

    000321322900011

  • EID of the result in the Scopus database