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Fig. 3 | BMC Medical Genomics

Fig. 3

From: Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Fig. 3

WFS1 mutations in a single patient. Patient 2590 has 5 missense mutations in the WFS1 gene. a shows a pedigree of patient 2590 (who is designated by an arrow), showing the hearing loss inherited in a pattern consistent with a dominant mechanism. b shows the audiogram of individual 2590 at age 62, crosses and circles show the thresholds of the left and right ear, respectively. c describes all 5 mutations in WFS1 and the predicted effect on Ensembl transcript ID ENST00000226760. The mutation predicted to cause a p.H313Y change has been described before in patients with Wolfram Syndrome

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