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Article

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

1
Research Centre for Medical Genetics, 115522 Moscow, Russia
2
Presidential Perinatal Center of the Public Health Ministry of Chuvashia, Genetic Counseling Department, 428018 Cheboksary, Russia
3
Independent Clinical Bioinformatics Laboratory, 123181 Moscow, Russia
4
N.A. Semashko National Research Institute of Public Health, 105064 Moscow, Russia
*
Author to whom correspondence should be addressed.
Academic Editors: Nora Franceschini and Elizabeth Blue
Genes 2021, 12(6), 820; https://doi.org/10.3390/genes12060820
Received: 1 May 2021 / Revised: 23 May 2021 / Accepted: 25 May 2021 / Published: 27 May 2021
(This article belongs to the Special Issue Genomics of Disease Risk in Diverse Populations)
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. View Full-Text
Keywords: hearing loss; deafness; Chuvash population; GIPC3; population frequency; “bottle neck” effect hearing loss; deafness; Chuvash population; GIPC3; population frequency; “bottle neck” effect
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MDPI and ACS Style

Petrova, N.V.; Marakhonov, A.V.; Balinova, N.V.; Abrukova, A.V.; Konovalov, F.A.; Kutsev, S.I.; Zinchenko, R.A. Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population. Genes 2021, 12, 820. https://doi.org/10.3390/genes12060820

AMA Style

Petrova NV, Marakhonov AV, Balinova NV, Abrukova AV, Konovalov FA, Kutsev SI, Zinchenko RA. Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population. Genes. 2021; 12(6):820. https://doi.org/10.3390/genes12060820

Chicago/Turabian Style

Petrova, Nika V., Andrey V. Marakhonov, Natalia V. Balinova, Anna V. Abrukova, Fedor A. Konovalov, Sergey I. Kutsev, and Rena A. Zinchenko 2021. "Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population" Genes 12, no. 6: 820. https://doi.org/10.3390/genes12060820

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