title: 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.
authors.affiliation: St John's Institute of Dermatology, King's College London, London, UK.
authors.forename: Gabriela
authors.initials: G
authors.lastname: Petrof
authors.forename: Kenneth
authors.initials: K
authors.lastname: Fong
authors.forename: Joey E
authors.initials: JE
authors.lastname: Lai-Cheong
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Cockayne
authors.forename: John A
authors.initials: JA
authors.lastname: McGrath
mesh_terms: D018389:Codon, Nonsense; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005141:Eyelid Diseases / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008875:Middle Aged; D017422:Sequence Analysis, DNA; D013577:Syndrome; D051153:Wnt Proteins / Q000235:genetics*; D060449:Wnt Signaling Pathway / Q000235:genetics
chemical_list: D018389:Codon, Nonsense; C484142:WNT10A protein, human; D051153:Wnt Proteins