ANO5 and gnathodiaphyseal dysplasia: GDD is mainly caused by the c.1066 T > C (p.Cys356Arg), c.1066T > G (p.Cys356Gly), and c.1067 G > A (p.Cys356Tyr) mutations in exon 11 of ANO5, with another few reported mutations in exons 7 and 15.