Diversity and Prevalence of Hereditary Diseases among Nogais of the Karachay-Cherkess Republic

Зинченко, Р. А.; Makaov, A. Kh.; Кадышев, В. В.; Галкина, В. А.; Дадали, Е. Л.; Mikhailova, L. K.; Shurygina, M. F.; Marakhonov, Andrey V.; Петрова, Н. В.; Петрина, Н. Е.; El’chinonva, G. I.; Гундорова, П.; Танас, А. С.; Стрельников, В. В.; Polyakov, A. V.; Ek, Ginter

doi:10.1134/s1022795418070165

Cited by 3 publications

(2 citation statements)

References 7 publications

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“… Note: * Variant frequencies were calculated from references ( Zinchenko et al, 2007a , 2007b , 2007c ; Petrina et al, 2017 ; Shokarev et al, 2005 ; Sharonova, Osetrova & Zinchenko, 2009 ; Zinchenko, Osetrova & Sharonova, 2012 ; Zinchenko et al, 2018 ; Shearer et al, 2013 ). …”

Section: Resultsmentioning

confidence: 99%

“…Our previous studies have shown that both allelic and locus heterogeneity genetic causes of NSNHL are observed in populations and ethnic groups of the Russian Federation: in Mari-El Republic ( Zinchenko et al, 2007a ); Udmurt Republic ( Zinchenko et al, 2007b ); Chuvash Republic ( Zinchenko et al, 2007c ); Karachay–Cherkess Republic ( Petrina et al, 2017 ); Rostov region ( Petrina et al, 2018 ; Shokarev et al, 2005 ); Kirov region ( Sharonova, Osetrova & Zinchenko, 2009 ; Zinchenko, Osetrova & Sharonova, 2012 ); and in the Nogai population ( Zinchenko et al, 2018 ; Petrina et al, 2020 ). The following mutation rates of c.35delG were found: Chuvash, 0.78%; Bashkirs, 0.25%; Karachay, 0.14%; Udmurts, 0.25%; Russians in general, ~0.04–0.05% (1:2,000–2,500 newborns).…”

Section: Introductionmentioning

confidence: 99%

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Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia–Alania

Петрова

Tebieva

Кадышев

et al. 2023

PeerJ

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More than 50% of congenital hearing loss is hereditary, in which the majority form is non-syndromic. In this study we estimate the most prevalent pathogenic genetic changes in an Ossetian cohort of patients. This is useful for local public health officials to promote genetic counseling of affected families with regard to high allele frequencies of prevalent pathogenic variants and assortative mating in the community of people with hearing loss. In this study, genetic heterogeneity of hereditary non-syndromic sensorineural hearing loss (NSNHL) in a cohort of 109 patients and an assessment of the frequency of two GJB2 gene pathogenic variants in a cohort of 349 healthy individuals from the populations of the Republic of North Ossetia–Alania (RNO–Alania) were assessed. The molecular genetic cause of NSNHL in the GJB2 gene in RNO–Alania was confirmed in ~30% of the cases, including ~27% in Ossetians. In Russian patients, the most frequent variant is GJB2:c.35delG (~83%). The GJB2:c.358_360delGAG variant was found to be the most frequent among Ossetians (~54%). Two genetic variants in GJB2, c.35delG and c.358_360delGAG, accounted for 91% of GJB2 pathogenic alleles in the Ossetian patients. A search for large genome rearrangements revealed etiological cause in two Ossetian patients, a deletion at the POU3F4 gene locus associated with X-linked hearing loss (type DFNX2). In another Ossetian patient, a biallelic pathogenic variant in the MYO15A gene caused hearing loss type DFNB3 was identified, and in one Russian family a heterozygous MYH14 gene variant associated with dominant NSNHL was found. Thus, the informative value of the diagnosis was ~37% among all patients with NSNHL from RNO–Alania and ~32% among the Ossetians. These estimates correspond to the literature data on the fraction of recessive genetic forms of hearing loss within the affected population. The importance of this study consists not only in the estimation of the most prevalent pathogenic genetic changes in the Ossetian cohort of patients which could be useful for the public health but also in the genetic counselling of the affected families with regard to the high allele frequencies of revealed pathogenic variants as well as to the assortative mating in community of people with hearing loss.

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Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia–Alania

Петрова

Tebieva

Кадышев

et al. 2023

PeerJ

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Genetic etiology of hearing loss in Russia

Posukh

2021

Hum Genet

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Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population

Петрова

Marakhonov

Balinova

et al. 2021

Genes

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Hereditary nonsyndromic sensorineural hearing loss is a disease in which hearing loss occurs due to damage to the organ of the inner ear, the auditory nerve, or the center in the brain that is responsible for the perception of sound, characterized by wide locus and allelic heterogeneity and different types of inheritance. Given the diversity of population of the Russian Federation, it seems necessary to study the ethnic characteristics of the molecular causes of the disease. The aim is to study the molecular and genetic causes of hereditary sensorineural hearing loss in Chuvash, the fifth largest ethnic group in Russia. DNA samples of 26 patients from 21 unrelated Chuvash families from the Republic of Chuvashia, in whom the diagnosis of hereditary sensorineural hearing loss had been established, were analyzed using a combination of targeted Sanger sequencing, multiplex ligase-dependent probe amplification, and whole exome sequencing. The homozygous variant NM_133261.3(GIPC3):c.245A>G (p.Asn82Ser) is the major molecular cause of hereditary sensorineural hearing loss in 23% of Chuvash patients (OMIM #601869). Its frequency was 25% in patients and 1.1% in healthy Chuvash population. Genotyping of the NM_133261.3(GIPC3):c.245A>G (p.Asn82Ser) variant in five neighboring populations from the Volga-Ural region (Russian, Udmurt, Mary, Tatar, Bushkir) found no evidence that this variant is common in those populations.

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Diversity and Prevalence of Hereditary Diseases among Nogais of the Karachay-Cherkess Republic

Cited by 3 publications

References 7 publications

Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia–Alania

Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia–Alania

Genetic etiology of hearing loss in Russia

Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population

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