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Fig. 3 | Journal of Translational Medicine

Fig. 3

From: Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome

Fig. 3

Identification of TWNK mutations in the analyzed families. a Pedigree of the investigated family. The proband is marked with an arrow. Black symbols indicate individuals affected with PRLTS5 and open symbols indicate unaffected individuals; diagonal line denotes the deceased father. The TWNK genotypes identified in the family members are reported at the cDNA and protein levels according to the HGVS-nomenclature (; accessed 07/2016). b WES in the proband revealed an A>G transition (upper left panel) and G>A transition (lower left panel), corresponding to p.Asn399Ser (AAT>AGT) and p.Arg601Gln (CGG>CAG), respectively, in the TWNK gene. Direct Sanger sequencing of TWNK confirmed the presence of the two mutations (right panel). For each mutation sequencing of the forward (top) and the reverse (bottom) strand is shown

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