Table 1.
The results of the WES analysis and variants filtering for seven patients.
Table 2.
Missense variants identified in individuals studied by WES.
Fig 1.
Identification of the c.5254G>A (p.Gly1752Arg) mutation in the RAI1 gene in Altaian families.
(A) Pedigrees of the WES families F38, F40, and additional four Altaian families F18, F37, F42, and F43 with mutation c.5254G>A (p.Gly1752Arg) in the RAI1 gene. (B) Validation of c.5254G>A by Sanger sequencing. WES was performed for affected subjects indicated by blue codes. Black symbols represent individuals with congenital profound HL, moderate or severe HL in individuals is marked by grey symbols. M—mutation c.5254G>A (p.Gly1752Arg), wt—wild type.
Fig 2.
Identification of the c.1111C>G (p.Gly371Arg) mutation in the OTOF gene and the c.2168A>G (p.His723Arg) mutation in the SLC26A4 gene in Altaian families.
(A) Extended pedigree of the WES family F54 (together with related family F24) with mutation c.1111C>G (p.Gly371Arg) in the OTOF gene denoted as M. (B) Validation of c.1111C>G by Sanger sequencing. (C) Pedigree of the WES family F53 with mutation c.2168A>G (p.His723Arg) in the SLC26A4 gene which is denoted as M. (D) Validation of c.2168A>G by Sanger sequencing. WES was performed for affected subjects indicated by blue codes. Black symbols represent individuals with congenital profound HL; grey symbol represents individual 24-II-1 with moderate or severe HL. wt—wild type.
Fig 3.
Prevalence of mutations c.5254G>A (RAI1), c.1111C>G (OTOF), and c.2168A>G (SLC26A4) on the territory of the Altai Republic.
(A) Territorial distribution of individuals homozygous or heterozygous for mutations denoted by fully or half-colored circle, correspondingly: c.5254G>A (RAI1)–by red; c.1111C>G (OTOF)–by blue; c.2168A>G (SLC26A4)–by green. (B) Distribution of studied Altaian patients (n = 93) and Altaian control sample (n = 120) on the territory of the Altai Republic.