By whole-exome sequencing and informatics analysis, at the mapped locus, merely the mutation of g.42882636T>A (NC_000017.10), equivalent to g.44805268T>A (NC_000017.11) or NM_005497.4:c.550A>G;p.R184G in the gene of GJC1, coding for a protein termed GJ gamma 1 (GJC1) or Cx45, was verified by Sanger sequencing analysis to be in co-segregation with CHD and AVB in the entire family. The gene discussed is GJC1; the disease is atrioventricular block.