FIGURE 2.

Pedigrees and Sanger sequencing of families with EDA mutation. (a) The pedigree of the patient A; (b) The EDA c.1136T>C mutation was not observed in healthy father of patient A; (c) The mother of the patient A was a pregnant heterozygous carrier with c.1136T>C missense mutation in EDA gene; (d) Mutation status of EDA c.1136T>C for patient A; (e) Prenatal diagnosis of a EDA c.1136T>C heterozygous missense mutation in the fetal EDA gene; (f) The pedigree of the patient B; (g,h) The parents of patient B were unaffected; and (i) Mutation status of EDA c.[866G>C;868A>T] for patient B. The mutant base is boxed. XLHED, X‐linked hypohidrotic ectodermal dysplasia; WT, wild type; Mut, mutation; □, normal male; ○, normal male; ◉, female XLHED carrier; ■, male XLHED patient and ⋄, fetus; the arrow shows the proband; pedigree with those affected shown in black filled symbols