First report on an X-linked hypohidrotic ectodermal dysplasia family with X chromosome inversion: Breakpoint mapping reveals the pathogenic mechanism and preimplantation genetics diagnosis achieves an unaffected birth.

•This study was first to report an XLHED family with inv(X)(p21q13).•NGS was applied to define the inversion breakpoint and ED1 was verified disrupted.•PGD precisely identified whether the embryos with X chromosome abnormality or not.•It is the first report on an unaffected birth following PGD for XLHED due to inv(X).