The audiological analysis in the patients homozygous for the c.-23+1G>A mutation in the GJB2 gene presenting with the loss of hearing in Yakutiya

Teryutin F.M.

Yakutsk Research Centre of Complex Medical Problems, Yakutsk, Russia, 677010;
M.K. AmosovInstitute of Natural Sciences, North-Eastern Federal University, Yakutsk, Russia, 677010

Barashkov N.A.

Yakutsk Research Centre of Complex Medical Problems, Yakutsk, Russia, 677010;
M.K. AmosovInstitute of Natural Sciences, North-Eastern Federal University, Yakutsk, Russia, 677010

Kunel’skaya N.L.

N.I. Pirogov Russian National Research Medical University, Moscow, Russia, 117997;
L.I. Sverzhevsky Moscow Research and Practical Centre of Otorhinolaryngology, Moscow Health Department, Moscow, Russia, 117152

Pshennikova V.G.

Yakutsk Research Centre of Complex Medical Problems, Yakutsk, Russia, 677010;
M.K. AmosovInstitute of Natural Sciences, North-Eastern Federal University, Yakutsk, Russia, 677010

Solovyev A.V.

Saint-Petersburg Dzhanelidze Research Institute of Emergency Medicine, St. Petersburg, Russia

The audiological analysis in the patients homozygous for the c.-23+1G>A mutation in the GJB2 gene presenting with the loss of hearing in Yakutiya

Authors:

Teryutin F.M., Barashkov N.A., Kunel’skaya N.L., Pshennikova V.G., Solovyev A.V.

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Journal: Russian Bulletin of Otorhinolaryngology. 2016;81(1): 19‑24

DOI: 10.17116/otorino201681119-24

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To cite this article:

Teryutin FM, Barashkov NA, Kunel’skaya NL, Pshennikova VG, Solovyev AV. The audiological analysis in the patients homozygous for the c.-23+1G>A mutation in the GJB2 gene presenting with the loss of hearing in Yakutiya. Russian Bulletin of Otorhinolaryngology. 2016;81(1):19‑24. (In Russ.)
https://doi.org/10.17116/otorino201681119-24

Подписка 2025 (Russian Bulletin of Otorhinolaryngology)

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In the course of previous investigations carried out in the Republic of Sakha (Yakutiya), we have identified the main molecular-genetic factor responsible for the hereditary impairment of hearing among the indigenous population (mostly the Yakuts).The disease was shown to be attributable to the c.-23+1G>A mutation localized in the splice donor site (exon 1) of the GJB2 (Cx26) gene. The present study involved the comprehensive audiological analysis of the patients homozygous for the c.-23+1G>A mutation in the GJB2 gene based on the results of the study of a large sample of the patients residing in Yakutiya. All individuals with the GJB2 genotype c.-23+1G>A/c.-23-1G>A (n=108) at the mean age of 14.32±4.7 years (all ethnic Yakuts)were examined with the use oftonal threshold audiometry for air conduction testing at the frequencies of 0.25, 0.5, 1.0, 2.0, 4.0, and 8.0 kHz and bone conduction testing at the frequencies of 0.25, 0.5, 1.0, and 4.0 with a step of 5.0 dB.The results of the ASSR test were used whenever tonal threshold audiometry proved impracticable The data obtained in the study characterize the allelic form of the disease associated with the GJB2 genotype c.-23+1G>A/c.-23-1G>A as the congenital bilateral symmetric (90.1%), sensorineural (90.1%) form of hearing impairment of variable severity (from grade 1 to complete deafness) with the «flat» audiological profile (median slope not more than 5.0 dBin the extended frequency range (EFR) of 0.5, 1.0, 2.0, and 4.0, kHz). It is concluded that the results of the audiological analysis performed in the present study give evidence of relatively homogeneous but variable in terms of severity impairment of hearing in the patients homozygous for the c.-23+1G>A mutation in the GJB2 (Cx26) gene. It may serve as a positive prognostic sign to be used in the development and prescription of hearing aids.

Keywords:

deafness

c-23+1G>A mutation

GJB2 gene

audiometry

hearing thresholds

Authors:

Teryutin F.M.

Yakutsk Research Centre of Complex Medical Problems, Yakutsk, Russia, 677010;
M.K. AmosovInstitute of Natural Sciences, North-Eastern Federal University, Yakutsk, Russia, 677010

Barashkov N.A.

Yakutsk Research Centre of Complex Medical Problems, Yakutsk, Russia, 677010;
M.K. AmosovInstitute of Natural Sciences, North-Eastern Federal University, Yakutsk, Russia, 677010

Kunel’skaya N.L.

Pshennikova V.G.

Yakutsk Research Centre of Complex Medical Problems, Yakutsk, Russia, 677010;
M.K. AmosovInstitute of Natural Sciences, North-Eastern Federal University, Yakutsk, Russia, 677010

Solovyev A.V.

Saint-Petersburg Dzhanelidze Research Institute of Emergency Medicine, St. Petersburg, Russia

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