ymjЯкутский медицинский журналYakut Medical Journal1813-19052312-1017ЯНЦ КМП10.25789/YMJ.2022.80.10ymj-267Research ArticleМЕТОДЫ ДИАГНОСТИКИ И ЛЕЧЕНИЯMETHODS OF DIAGNOSIS AND TREATMENTАнализ порогов слуха у пациентов с нарушениями слуха, связанными с мутациями гена GJB2 (Сх26) в БурятииAnalysis of hearing thresholds in patients with hearing impairments associated with mutations of the GJB2 gene (Sh26) in BuryatiaТерютинФ. М.TeryutinF. M.

Терютин Федор Михайлович – к.м.н.

Teryutin Fedor Mikhailovich – PhD in Medicine, senior researcher

rest26@mail.ruПшенниковаВ. Г.PshennikovaV. G.

Пшенникова Вера Геннадиевна – к.б.н., в.н.с.

Pshennikova Vera Gennadiyevna – PhD in Biology, external researcher

РомановГ. П.RomanovG. P.

Романов Георгий Прокопьевич – м.н.с., лаб.

Romanov Georgy Prokopyevich – researcher, lab

СоловьевА. В.SolovyovA. V.

Соловьев Айсен Васильеви – к.б.н., н.с.

Solovyov Aisen Vasilyevich – PhD in Biology, researcher

КларовЛ. А.KlarovL. A.

Кларов Леонид Александрович – м.н.с

Klarov Leonid Aleksandrovich – junior researcher

ЛебедеваН. А.LebedevaN. A.

Лебедева Наталья Афанасьевна – к.м.н., доцент 

Lebedeva Natalia Afanasyevna – PhD in Medicine, Associate Professor

БарашковН. А.BarashkovN. A.

Барашков Николай Алексеевич – к.б.н., в.н.с.-руковод. лаб.,

Barashkov Nikolay Alekseevich – PhD in Biology, external researcher;

ФГБНУ «Якутский научный центр комплексных медицинских проблем»РоссияYakut Science Centre of Complex Medical ProblemsRussian FederationФГАОУ ВО «Северо-Восточный федеральн. ун-т им. М.К. Аммосова».РоссияM.K. Ammosov North-Eastern Federal UniversityRussian Federation202206022025043640Copyright © Терютин Ф.М., Пшенникова В.Г., Романов Г.П., Соловьев А.В., Кларов Л.А., Лебедева Н.А., Барашков Н.А., 20252025Терютин Ф.М., Пшенникова В.Г., Романов Г.П., Соловьев А.В., Кларов Л.А., Лебедева Н.А., Барашков Н.А.Teryutin F.M., Pshennikova V.G., Romanov G.P., Solovyov A.V., Klarov L.A., Lebedeva N.A., Barashkov N.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://ymj.elpub.ru/jour/article/view/267

Нами в Республике Бурятия проведен анализ состояния слуха у 26 пациентов с нарушением слуха, у которых были выявлены биаллельные мутации гена GJB2 (Сх26). Генотип-фенотипические сопоставления показали, что при всех 7 GJB2-генотипах: с.[35delG];[35delG]; c.[-23+1G>A];[35delG]; c.[-23+1G>A];[-23+1G>A]; c.[-23+1G>A];[516G>C]; c.[-23+1G>A];[327_328delGGinsA]; c.[35delC];[299_300delAT]; c.[235delC];[235delC] выявляются врожденная (выявленная до 1 года), симметричная, сенсоневральная формы потери слуха, вариабельные по тяжести как между различными GJB2-генотипами, так и внутри одного GJB2-генотипа. На основе медианных порогов слышимости в РДЧ0.5,1.0,2.0,4.0кГц были выделены три фенотипа - «мягкий», «средний» и «тяжелый». В результате генотип-фенотипического сопоставления GJB2-генотипы c.[-23+1G>A];[-23+1G>A] и c.[-23+1G>A];[516G>C] были отнесены к генотипам со «средней» (медиана 66.875 дБ и 64.375 дБ соответственно), а остальные - с.[35delG];[35delG]; c.[-23+1G>A];[35delG]; c.[-23+1G>A];[327_328delGGinsA]; c.[35delC];[299_300delAT]; c.[235delC];[235delC] – к генотипам с «тяжелой» формой фенотипического эффекта. Генотипов с «мягким» фенотипическим эффектом не выявлено. При этом пороги слышимости у GJB2-генотипов со «средней» формой фенотипического эффекта были достоверно лучше, чем в референсной группе с GJB2-генотипом с.[35delG];[35delG].

In this work, the hearing analysis of 26 patients with hearing impairment, who had biallelic mutations of the GJB2 gene (Sh26) was carried out in the Republic of Buryatia. Genotype-phenotypic comparisons showed that for all 7 GJB2 genotypes: c.[35delG];[35delG]; c.[-23+1G>A];[35delG]; c.[-23+1G>A];[-23+1G>A]; c.[-23+1G>A];[516G>C]; c.[-23+1G>A];[327_328delGGinsA]; c.[35delC];[299_300delAT]; c.[235delC];[235delC] congenital (detected before one year – 76.0%), symmetrical (84.6%), sensorineural (100.0%) form of hearing loss are detected, variable in severity both between different GJB2 genotypes and within the same GJB2 genotype (grade III in 9.6%, grade IV in 17.3%, deafness in 73.1%). Based on the median hearing thresholds PTA0.5,1.0,2.0,4.0 kHz, three phenotypes were identified - "mild phenotype", "medium phenotype" and "severe phenotype". We conducted a genotype-phenotypic comparison, as a result of which GJB2-genotypes c.[-23+1G>A];[-23+1G>A] and c.[-23+1G>A];[516G>C] were assigned to genotypes with “average” (median 66.875 dB and 64.375 dB, respectively), and the remaining GJB2-genotypes: c.[35delG];[35delG]; c.[-23+1G>A];[35delG]; c.[-23+1G>A];[327_328delGGinsA]; c.[35delC];[299_300delAT]; c.[235delC];[235delC] - to genotypes with a "severe" form of the phenotypic effect. No genotypes with a "mild" phenotypic effect have been identified. At the same time, the hearing thresholds for GJB2 genotypes with the "average" form of the phenotypic effect (c.[-23+1G>A(;)-23+1G>A] and c.[-23+1G>A(;)516G>C]) were significantly better (p=0.02268) than in the reference group with GJB2 genotype с.[35delG];[35delG].

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The authors declare that there are no conflicts of interest present.