Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A

Abstract

Schöpf-Schulz-Passarge syndrome (SSPS; MIM224750) is a rare autosomal recessive form of ectodermal dysplasia that was recently shown to result from mutations in the WNT10A gene. We now report a 59-year-old woman with SSPS in whom a homozygous nonsense mutation (p.Cys107X) in WNT10A was detected. Mutations in this gene may also underlie odonto-onycho-dermal dysplasia and other ectodermal dysplasia syndromes. To date, 16 different WNT10A mutations have been reported, although considerable clinical and molecular overlap exists. This report demonstrates the molecular basis of a further case of SSPS and highlights the clinical features of this unusual ectodermal dysplasia syndrome.