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• W2403612949 abstract "Pathogenic variants in the GJB2 gene, encoding connexin 26, are known to be a major cause of hearing impairment (HI). More than 300 allelic variants have been identified in the GJB2 gene. Spectrum and allelic frequencies of the GJB2 gene vary significantly among different ethnic groups worldwide. Until now, the spectrum and frequency of the pathogenic variants in exon 1, exon 2 and the flanking intronic regions of the GJB2 gene have not been described thoroughly in the Sakha Republic (Yakutia), which is located in a subarctic region in Russia. The complete sequencing of the non-coding and coding regions of the GJB2 gene was performed in 393 patients with HI (Yakuts—296, Russians—51, mixed and other ethnicities—46) and in 187 normal hearing individuals of Yakut (n = 107) and Russian (n = 80) populations. In the total sample (n = 580), we revealed 12 allelic variants of the GJB2 gene, 8 of which were recessive pathogenic variants. Ten genotypes with biallelic recessive pathogenic variants in the GJB2 gene (in a homozygous or a compound heterozygous state) were found in 192 out of 393 patients (48.85%). We found that the most frequent GJB2 pathogenic variant in the Yakut patients was c.-23+1G>A (51.82%) and that the second most frequent was c.109G>A (2.37%), followed by c.35delG (1.64%). Pathogenic variants с.35delG (22.34%), c.-23+1G>A (5.31%), and c.313_326del14 (2.12%) were found to be the most frequent among the Russian patients. The carrier frequencies of the c.-23+1G>A and с.109G>A pathogenic variants in the Yakut control group were 10.20% and 2.80%, respectively. The carrier frequencies of с.35delG and c.101T>C were identical (2.5%) in the Russian control group. We found that the contribution of the GJB2 gene pathogenic variants in HI in the population of the Sakha Republic (48.85%) was the highest among all of the previously studied regions of Asia. We suggest that extensive accumulation of the c.-23+1G>A pathogenic variant in the indigenous Yakut population (92.20% of all mutant chromosomes in patients) and an extremely high (10.20%) carrier frequency in the control group may indicate a possible selective advantage for the c.-23+1G>A carriers living in subarctic climate." @default.
• W2403612949 created "2016-06-24" @default.
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• W2403612949 date "2016-05-25" @default.
• W2403612949 modified "2023-09-27" @default.
• W2403612949 title "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)" @default.
• W2403612949 cites W1482128701 @default.
• W2403612949 cites W1516239447 @default.
• W2403612949 cites W1526799482 @default.
• W2403612949 cites W1551738582 @default.
• W2403612949 cites W1557196716 @default.
• W2403612949 cites W1559863756 @default.
• W2403612949 cites W1560512206 @default.
• W2403612949 cites W1693445079 @default.
• W2403612949 cites W1935916792 @default.
• W2403612949 cites W1963768450 @default.
• W2403612949 cites W1967164346 @default.
• W2403612949 cites W1971319505 @default.
• W2403612949 cites W1971367286 @default.
• W2403612949 cites W1971538414 @default.
• W2403612949 cites W1974278943 @default.
• W2403612949 cites W1975194979 @default.
• W2403612949 cites W1977491087 @default.
• W2403612949 cites W1981265676 @default.
• W2403612949 cites W1984963327 @default.
• W2403612949 cites W1985047646 @default.
• W2403612949 cites W1985819393 @default.
• W2403612949 cites W1987158791 @default.
• W2403612949 cites W1991259792 @default.
• W2403612949 cites W1993079440 @default.
• W2403612949 cites W2001207821 @default.
• W2403612949 cites W2002903531 @default.
• W2403612949 cites W2005994305 @default.
• W2403612949 cites W2008763104 @default.
• W2403612949 cites W2008937128 @default.
• W2403612949 cites W2011206896 @default.
• W2403612949 cites W2020819282 @default.
• W2403612949 cites W2020995437 @default.
• W2403612949 cites W2028301003 @default.
• W2403612949 cites W2030444807 @default.
• W2403612949 cites W2034213611 @default.
• W2403612949 cites W2034612349 @default.
• W2403612949 cites W2038789570 @default.
• W2403612949 cites W2039224372 @default.
• W2403612949 cites W2041313562 @default.
• W2403612949 cites W2043047030 @default.
• W2403612949 cites W2043730073 @default.
• W2403612949 cites W2043982229 @default.
• W2403612949 cites W2045791858 @default.
• W2403612949 cites W2048749704 @default.
• W2403612949 cites W2054280971 @default.
• W2403612949 cites W2054949807 @default.
• W2403612949 cites W2059630016 @default.
• W2403612949 cites W2061212837 @default.
• W2403612949 cites W2061778495 @default.
• W2403612949 cites W2063330315 @default.
• W2403612949 cites W2063743707 @default.
• W2403612949 cites W2065019964 @default.
• W2403612949 cites W2066021184 @default.
• W2403612949 cites W2066457451 @default.
• W2403612949 cites W2067320201 @default.
• W2403612949 cites W2069274845 @default.
• W2403612949 cites W2069371016 @default.
• W2403612949 cites W2069966365 @default.
• W2403612949 cites W2075513227 @default.
• W2403612949 cites W2079447324 @default.
• W2403612949 cites W2080059037 @default.
• W2403612949 cites W2081395093 @default.
• W2403612949 cites W2081695929 @default.
• W2403612949 cites W2082654784 @default.
• W2403612949 cites W2087113919 @default.
• W2403612949 cites W2089410308 @default.
• W2403612949 cites W2091520638 @default.
• W2403612949 cites W2092614165 @default.
• W2403612949 cites W2092890929 @default.

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