Figure 5.
Evidence for digenic inheritance of USH1 involving CDH23 and PCDH15. Pedigree and segregation of the mutations in CDH23 and PCDH15. The deaf proband is indicated by an arrow. CDH23/PCDH15 genotypes are given below the respective pedigree symbol (A). Direct sequence analysis showing the 5601delACC mutation (B) and wild-type (WT) allele (C) of PCDH15. Direct sequence analysis showing the 193delC mutation (D) and wild-type (WT) allele (E) of CDH23.