Figure 3.

Pedigree and Sanger sequencing analysis of families with variants in gap junction genes (GJA3 and GJA8). The chromatograms below each pedigree show the sequence detected via Sanger sequencing for each variant in families, and the gene names and mutation at cDNA and protein level have been mentioned on each pedigree. The penetrance of mutations in family CRCH20 (GJA8, c.73T > C) is incomplete. The arrowheads indicate the proband sequenced on the gene panel by AmpliSeq. Solid circles indicate affected females and solid squares show the affected males.