PMC2805421_01
The p.Lys836Asn mutation in the studied family with autosomal dominant optic neuropathy and hearing impairment. In the pedigree the individual number, the age of the individual, and the WFS1 genotypes are depicted. The affected woman and her two sons suffer optic neuropathy and hearing impairment and carry the c.2508G>C WFS1 mutation. Abbreviations: c.2508G>C WFS1 mutation (C); wildtype allele (wt).
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f1
Figure 1 shows the pedigree of this family.