title: [Connexin gene 26 (GJB2) mutations in patients with hereditary non-syndromic sensorineural loss of hearing in the Republic of Sakha (Yakutia)].
abstract: The aim of the study was to elucidate the causes of hereditary non-syndromic loss of hearing, a frequent monogene pathology in the Republic of Sakha (Yakutia). A search for mutations in the coding sequence of the connexin 26 gene gap-junction B2 (GJB2) was undertaken in 79 members of 65 unrelated families with the diagnosis of grade III-IV non-syndromic bilateral sensorineural loss of hearing. Five recessive mutations (35delG, V371, 312-326del14, 333-334delAA, R127H) and three polymorphic variants (V271, M34T, E114G) were identified in Yakut patients. Mutations 35delG (41.7%), 312-326dell4 (4.2%), and 333-334delAA (4.2%) were found in Caucasian patients (Russians, Ukrainians, Inguish). Yakuts were carriers of mutations 35delG (2.1%), V371 (2.1%), R127H (1.0%) and sequence variants V271 (6.3%), M34T (1.0%), E114G (1.0%). GJB2 mutations were identified in 50.1% of the Caucasian patients and in 7.2% of the Yakut patients. The low frequency of GJB2 mutations in Yakuts with non-syndromic sensorineural loss of hearing testifies to the presence of mutations of other genes controlling sound perception in this population.
authors.forename: N A
authors.initials: NA
authors.lastname: Barashkov
authors.forename: L U
authors.initials: LU
authors.lastname: Dzhemileva
authors.forename: S A
authors.initials: SA
authors.lastname: Fedorova
authors.forename: N R
authors.initials: NR
authors.lastname: Maksimova
authors.forename: E K
authors.initials: EK
authors.lastname: Khusnutdinova
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D015995:Prevalence; D012800:Siberia / Q000453:epidemiology; D055815:Young Adult
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26; D004247:DNA