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. 2015 Jun 19;47(6):e169. doi: 10.1038/emm.2015.32

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Copyright © 2015 KSBMB.

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Clinical findings of a patient with non-syndromic hearing loss. (a) Pedigree and genotypes of the family. Filled symbols represent ‘affected' individuals (□, males; ○, females; wt, wild type; N/A, not available). The propositus is indicated by an arrow. Note that the R75Q mutation arose de novo in affected family member II-9 and was inherited by III-3. I-1 and II-7 were heterozygous for the V37I mutation. The mutations R75Q and V37I were found to be on the same allele. (b) Pure tone audiograms of the affected members (II-9 and III-3) of the family.