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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

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

Fig. 3

Pedigrees with novel candidate genes associated with hearing loss. A BAIAP2L2; B HKDC1; C SVEP1; D CACNG1. Genotypes of candidate genes are shown in the pedigree. Audiograms of the probands, and predicted structures of gene products are shown. Horizontal bars with or without sharp symbols (#) above each individual indicate that genotypes were determined by WES and Sanger sequencing or Sanger sequencing, respectively. ASSR, auditory steady-state response; COR, conditioned orientation response; PTA, pure-tone audiometry. Positions of each candidate variant on the primary structure of the gene product are also indicated, along with the structural or functional domains of the product

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