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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes

Fig. 2

Clinical and genetic features of five families carrying an STRC copy number variant. A–E Pedigrees of families with genotype variants in STRC or MYO6. Horizontal bars with or without sharp symbols (#) above each individual indicate that genotypes were determined by WES and qPCR or qPCR, respectively. Patient genotypes are indicated in blue. F, Estimated copy numbers of STRC exon 19 and 5′ UTR determined by qPCR. Results from four individuals with normal hearing are shown as controls. G Audiograms from patients with homozygous large deletions of the STRC region. Open circles and ⨉ symbols indicate hearing level thresholds in the right and left ears, respectively. Open triangles indicate thresholds measured in both ears. Left and right downward arrows indicate that the hearing level was below the indicated level at the respective sound frequency in right and left ears, respectively

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