Analysis of  GJB6  (Сx30) and  GJB3  (Сx31) genes in deaf patients with monoallelic mutations in  GJB2  (Сx26) gene in the Sakha Republic (Yakutia)

V. G. Pshennikova; N. A. Barashkov; A. V. Solovyev; G. P. Romanov; E. E. Diakonov; N. N. Sazonov; I. V. Morozov; A. A. Bondar; O. L. Posukh; L. U. Dzhemileva; E. K. Khusnutdinova; M. I. Tomsky; S. A. Fedorova

doi:10.1134/S1022795417030103

Analysis of GJB6 (Сx30) and GJB3 (Сx31) genes in deaf patients with monoallelic mutations in GJB2 (Сx26) gene in the Sakha Republic (Yakutia)

Authors: Pshennikova V.G.¹^,2, Barashkov N.A.¹^,2, Solovyev A.V.¹^,2, Romanov G.P.¹^,2, Diakonov E.E.², Sazonov N.N.², Morozov I.V.³^,4, Bondar A.A.³, Posukh O.L.⁵^,4, Dzhemileva L.U.⁶, Khusnutdinova E.K.⁶^,7, Tomsky M.I.¹, Fedorova S.A.¹^,2
Affiliations:
1. Yakut Scientific Center of Сomplex Мedical Рroblems
2. Ammosov Institute of Natural Sciences
3. Institute of Chemical Biology and Fundamental Medicine, Siberian Branch
4. National Research University Novosibirsk State University
5. Institute of Cytology and Genetics, Siberian Branch
6. Institute of Biochemistry and Genetics, Ufa Scientific Centre
7. Department of Genetics and Fundamental Medicine
Issue: Vol 53, No 6 (2017)
Pages: 688-697
Section: Human Genetics
URL: https://journals.rcsi.science/1022-7954/article/view/188303
DOI: https://doi.org/10.1134/S1022795417030103
ID: 188303

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Abstract

Тhe DNA testing of autosomal recessive deafness type 1A (DFNB1A, MIM 220290) is complicated when deaf patients have only monoallelic (heterozygous) recessive mutations in the GJB2 (Сх26) gene that is uninformative for establishment of diagnosis. Such patients may be “random” heterozygous carriers of GJB2 mutations as well as have the mutant allele in a cis-regulatory region of GJB2 gene, in element genes encoding other connexins: GJB6 (Сх30) or GJB3 (Сх31). Previous studies of genetic causes of hearing loss in patients from Yakutia were directed to search for only mutations in the GJB2 gene, and the DNA diagnostics was uninformative for 9.7% (38/393) of the patients with monoallelic GJB2 mutations. In this work the search for mutations in genes GJB3 and GJB6 and two deletions с.del(GJB6-D13S1830) and с.del(GJB6-D13S1854) to the cis-regulatory region of GJB2 gene was conducted in 35 patients with GJB2 monoallelic mutations and in 104 normal hearing individuals. The genes studied are two synonymous substitution c.489G>A (р.Leu163Leu) (GJB6) and c.357C>T (р.Asn119Asn) (GJB3) have been found, probably do not have clinical significance, and two nonsynonymous substitution c.301G>A (p.Glu101Lys) (GJB6) and с.580G>A (p.Ala194Thr) (GJB3). Additional experimental evidences are needed for confirmation of pathogenic significance of detected nonsynonymous substitutions in development of hearing loss in studied patients. Diagnosis of the DFNB1A was confirmed in only one patient, who was discovered by the deletion с.del(GJB6-D13S1830) (GJB2) in combination with a recessive mutation с.35delG (GJB2). In general, our results indicate low contribution of mutations in genes GJB6 and GJB3 in hearing loss etiology in Yakutia.

Keywords

congenital hearing loss, autosomal recessive deafness 1A (DFNB1A), monoallelic GJB2-mutations, GJB6 (Cx30) gene, GJB3 (Cx31) gene, с.del(GJB6-D13S1830), Sakha Republic (Yakutia)

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Analysis of GJB6 (Сx30) and GJB3 (Сx31) genes in deaf patients with monoallelic mutations in GJB2 (Сx26) gene in the Sakha Republic (Yakutia)

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