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. 2016 Apr 15;11(4):e0153841. doi: 10.1371/journal.pone.0153841

Fig 1. Identification of the c.5254G>A (p.Gly1752Arg) mutation in the RAI1 gene in Altaian families.

Fig 1

(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.