Literature DB >> 34363095

Genetic etiology of hearing loss in Russia.

Olga L Posukh1,2.   

Abstract

Prevalence and locus/allelic heterogeneity of the hereditary hearing loss (HL) vary significantly in different human populations. Investigation of the hereditary HL diversity and the evaluation of the factors determining the region-specific landscapes of genetic HL are important for local healthcare and medical genetic services. This review presents the summarized data from the published studies concerning the genetic etiology of HL in different populations of Russia. Multiethnic population of Russia (in total, about 146 million on 2021) includes over 180 different ethnic groups, the number of which varies from millions to just several thousand people. Among them, Russians are the largest group (about 111 million). The contribution of GJB2 gene in the HL etiology in patients of different ethnicities and ethnic-specific prevalence of the GJB2 pathogenic variants were studied in many local populations of Russia. However, the investigation of other "deafness" genes is still limited to a relatively small number of studies on patients with HL of unsolved etiology.
© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.

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Year:  2021        PMID： 34363095     DOI： 10.1007/s00439-021-02327-7

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  44 in total

1.  A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.

Authors:  Ignacio del Castillo; Manuela Villamar; Miguel A Moreno-Pelayo; Francisco J del Castillo; Araceli Alvarez; Dolores Tellería; Ibis Menéndez; Felipe Moreno
Journal:  N Engl J Med       Date:  2002-01-24       Impact factor: 91.245

2.  A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2).

Authors:  Nikolay A Barashkov; Leonid A Klarov; Fedor M Teryutin; Aisen V Solovyev; Vera G Pshennikova; Edilia E Konnikova; Georgii P Romanov; Alexander V Tobokhov; Igor V Morozov; Alexander A Bondar; Olga L Posukh; Lilya U Dzhemileva; Mikhail I Tomsky; Elza K Khusnutdinova; Sardana A Fedorova
Journal:  Int J Pediatr Otorhinolaryngol       Date:  2017-11-06       Impact factor: 1.675

3.  [Frequency and the mutation spectrum of GJB2-related disorders of hearing in children from Dagestan as compared with the central European part of Russia].

Authors:  V P Bozhkova; Z Kh Khashaev; T M Umanskaia
Journal:  Biofizika       Date:  2010 May-Jun

4.  Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect.

Authors:  Nikolay A Barashkov; Lilya U Dzhemileva; Sardana A Fedorova; Fedor M Teryutin; Olga L Posukh; Elvira E Fedotova; Simeon L Lobov; Elza K Khusnutdinova
Journal:  J Hum Genet       Date:  2011-07-21       Impact factor: 3.172

5.  [The load and diversity of hereditary diseases in four raions of Rostov oblast].

Authors:  S S Amelina; N V Vetrova; M A Amelina; E V Degtereva; T I Ponomareva; G I El'chinova; L K Mikhaĭlova; R A Zinchenko
Journal:  Genetika       Date:  2014-01

6.  Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect.

Authors:  Elena A Bliznetz; Svetlana M Tverskaya; Rena A Zinchenko; Anna V Abrukova; Ekaterina N Savaskina; Maxim V Nikulin; Alexander G Kirillov; Evgeny K Ginter; Alexander V Polyakov
Journal:  Eur J Hum Genet       Date:  2009-01-28       Impact factor: 4.246

Review 7.  DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.

Authors:  Francisco J Del Castillo; Ignacio Del Castillo
Journal:  Front Mol Neurosci       Date:  2017-12-22       Impact factor: 5.639

8.  Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions.

Authors:  Elena A Bliznetz; Maria R Lalayants; Tatiana G Markova; Oleg P Balanovsky; Elena V Balanovska; Roza A Skhalyakho; Elvira A Pocheshkhova; Natalya V Nikitina; Sergey V Voronin; Elena K Kudryashova; Oleg S Glotov; Alexander V Polyakov
Journal:  J Hum Genet       Date:  2017-04-13       Impact factor: 3.172

9.  A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259*) in the MITF gene in Yakut patient from the Eastern Siberia (Sakha Republic, Russia).

Authors:  Nikolay A Barashkov; Georgii P Romanov; Uigulaana P Borisova; Aisen V Solovyev; Vera G Pshennikova; Fedor M Teryutin; Alexander A Bondar; Igor V Morozov; Elza K Khusnutdinova; Olga L Posukh; Tatiana E Burtseva; Jon Øyvind Odland; Sardana A Fedorova
Journal:  Int J Circumpolar Health       Date:  2019-12       Impact factor: 1.228

10.  Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic).

Authors:  Nikolay A Barashkov; Vera G Pshennikova; Olga L Posukh; Fedor M Teryutin; Aisen V Solovyev; Leonid A Klarov; Georgii P Romanov; Nyurgun N Gotovtsev; Andrey A Kozhevnikov; Elena V Kirillina; Oksana G Sidorova; Lena M Vasilyevа; Elvira E Fedotova; Igor V Morozov; Alexander A Bondar; Natalya A Solovyevа; Sardana K Kononova; Adyum M Rafailov; Nikolay N Sazonov; Anatoliy N Alekseev; Mikhail I Tomsky; Lilya U Dzhemileva; Elza K Khusnutdinova; Sardana A Fedorova
Journal:  PLoS One       Date:  2016-05-25       Impact factor: 3.240
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