FIGURE 3.

The results of Sanger sequencing and pedigree analysis of three children with compound heterozygous mutations. Three children with compound heterozygous variants were detected by newborn WGS. Two of them had variants at the GJB2 gene (A) (NM_004004.5, c.109G > A, p.V37I; NM_004004.5, c.235del, p.L79Cfs3); (C) (NM_004004.5, c.109G > A, p.V37I; NM_004004.5, c.299_300del, p.H100Rfs14), and one carried two variants at the PAH gene (B) (NM_000277.1, c.611A > G, p.Y204C and NM_000277.1, c.842 + 2T > A). Sanger sequencing confirmed that one variant was inherited from her/his mother. However, as infant father's sample was not available, we could not determine if the small deletion and insertion was inherited from the father or whether it was a de novo variant