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. 2017 Oct 5;8(10):259. doi: 10.3390/genes8100259

Figure 2.

Figure 2

Pedigrees and mutation information of X-linked hypohidrotic ectodermal dysplasia (XLHED) Families 1–2 and non-syndromic tooth agenesis (NSTA) Families 1–4. In XLHED Family 1, a novel Ectodysplasin A (EDA) mutation c.1051G>T (p.Val351Phe) was cosegregated in the family. In XLHED Family 2, the known de novo EDA mutation c.467G>A (p.Arg156His) was identified in the genome of the proband. In NSTA Family 1, the proband carried the heterozygous Wnt family member 10A (WNT10A) mutation c.511C>T (p.Arg171Cys). In NSTA Family 2, the heterozygous WNT10A mutation c.742C>T (p.Arg248*) was identified in the genome of the proband. In NSTA Family 3, the proband was found to have the heterozygous EDA mutation c.491A>C (p.Glu164Ala). In NSTA Family 4, the proband and her mother shared the EDA receptor (EDAR) mutation c.73C>T (p.Arg25*), while her father was wild-type at this location. Black arrows pointed to the probands. The individuals, whose blood samples were available, are marked by “+”. Red arrows indicate the mutations.