Figure 1.

Familial otosclerosis and the next-generation sequencing approach for discovering causal variants. (A) Schematic presenting the workflow implementing a combination of whole-exome sequencing, RNA-seq and functional analysis to identify disease-causing variants in familial otosclerosis. (B) Pedigree of Family B shows an autosomal dominant inheritance pattern, consistent with familial otosclerosis. A rare heterozygous missense variant, c.601G > A, was identified in SERPINF1. Open symbol, clinically unaffected; black symbol, confirmed otosclerosis; light grey symbol, other hearing loss; arrow, proband.