Molecular Genetic Study of the Causes of Nonsyndromic Sensorineural Hearing Loss in Patients from Georgia

被引:0
作者
Stepanova, A. A. [1 ]
Ismagilova, O. R. [1 ]
Galeeva, N. M. [1 ]
Markova, T. G. [2 ]
Tavartkiladze, G. A. [2 ]
Kvlividze, O. [3 ,4 ]
Polyakov, A., V [1 ]
机构
[1] Res Ctr Med Genet, Moscow 115478, Russia
[2] Natl Res Ctr Audiol & Hearing Rehabil, Moscow 117513, Russia
[3] Georgian Fdn Genet & Rare Dis, GE-0162 Tbilisi, Georgia
[4] New Vis Univ, Sch Med, GE-0159 Tbilisi, Georgia
关键词
hearing loss; GJB2; GJB2-related hearing loss; Georgia; GJB2; MUTATIONS; PREVALENCE; DEAFNESS; IVS1+1G-GREATER-THAN-A; COMMUNICATION; SPECTRUM;
D O I
10.1134/S1022795422050106
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Pathogenic variants in the GJB2 gene are the most common reason for nonsyndromic sensorineural hearing loss. In this study, we examined Georgian patients with sensorineural hearing loss. We establish the ratio of GJB2-related deafness among patients with impaired hearing. The mutation spectrum of the GJB2 gene in Georgia is represented by the following pathogenic variants: c.35delG, c.358_360delGAG, c.-23+1G>A, and c.551G>C. The estimated GJB2-related hearing loss carrier frequency is 2.6%. The following variants, which are common in Russian patients, were not detected in Georgian patients: STRC (c.2171_2174delTTTG), USH2A (c.11864G>A), SLC26A4 (c.1001G>T) and c.107A>C (p.His36Pro), CLIC5 (c.1121G>A). Molecular genetic diagnosis was established for 30.8% of patients.
引用
收藏
页码:585 / 592
页数:8
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