Hearing function in heterozygous carriers of a pathogenic GJB2 gene mutation

Title:

Hearing function in heterozygous carriers of a pathogenic GJB2 gene mutation

Creator:

Daniel Groh, Pavel Seeman, Jilek, M., Jiří Popelář, Zdeněk Kabelka, and Josef Syka

Identifier:

https://cdk.lib.cas.cz/client/handle/uuid:bdfe59bf-61bd-42a4-8b90-e9e9a3ea4134
uuid:bdfe59bf-61bd-42a4-8b90-e9e9a3ea4134

Subject:

Fyziologie člověka a srovnávací fyziologie, fyziologie člověka, human physiology, c.35delG mutation, audiogram normalization, high-frequency audiometry, otoacoustic emissions, high-frequency hearing loss, 14, and 612

Type:

article, články, model:article, and TEXT

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 hearing in heterozygous men in comparison with controls was not statisticaly significant. A comparison of TEOAE responses and DPOAE levels between GJB2 c.35delG heterozygotes and controls did not reveal any significant differences. The results prove the importance of using audiometry over the extended frequency range and audiogram normalization for age and sex to detect minor hearing impairments, even in a relatively small group of subjects of different ages., D. Groh, ... [et al.]., and Obsahuje seznam literatury

Language:

English

Rights:

http://creativecommons.org/licenses/by-nc-sa/4.0/
policy:public

Source:

Physiological research | 2013 Volume:62 | Number:3

Harvested from:

CDK

Metadata only:

false