title: Clinical features and WNT10A mutations in seven unrelated cases of Schöpf-Schulz-Passarge syndrome.
abstract: BACKGROUND
  Schöpf-Schulz-Passarge syndrome (SSPS) is an autosomal recessive form of ectodermal dysplasia resulting from mutations in WNT10A.
  
  
  OBJECTIVE
  To document the spectrum of clinical features and search for pathogenic mutations in seven unrelated cases of SSPS.
  
  
  METHODS
  Clinical examination of patients and Sanger sequencing of genomic DNA spanning the coding exons and flanking spice sites of WNT10A.
  
  
  RESULTS
  Most subjects had bilateral eyelid cysts and some degree of palmoplantar keratoderma, although nail, hair, and teeth abnormalities were variably present. Bi-allelic pathogenic mutations in WNT10A were found in all seven subjects. New mutations comprised p.Glu390*, p.Ser270Arg, and p.Cys362Arg; the recurrent mutations were p.Cys107* and p.Ala131Thr.
  
  
  CONCLUSIONS
  This study reveals the range of ectodermal pathology in cases of SSPS that result from WNT10A mutations. Eyelid cysts provide a useful clinical clue to diagnosing SSPS which may be less rare than is currently appreciated.
authors.affiliation: St. John's Institute of Dermatology, King's College London (Guy's Campus), London, SE1 9RT, U.K.
authors.forename: C
authors.initials: C
authors.lastname: Tziotzios
authors.forename: G
authors.initials: G
authors.lastname: Petrof
authors.forename: L
authors.initials: L
authors.lastname: Liu
authors.forename: A
authors.initials: A
authors.lastname: Verma
authors.forename: E K
authors.initials: EK
authors.lastname: Wedgeworth
authors.forename: J E
authors.initials: JE
authors.lastname: Mellerio
authors.forename: J A
authors.initials: JA
authors.lastname: McGrath
mesh_terms: D000328:Adult; D000848:Anodontia / Q000235:genetics* / Q000473:pathology; D004439:Eccrine Glands / Q000002:abnormalities* / Q000473:pathology; D005142:Eyelid Neoplasms / Q000235:genetics* / Q000473:pathology; D005260:Female; D006579:Heterozygote; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics* / Q000473:pathology; D007645:Keratoderma, Palmoplantar / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D051153:Wnt Proteins / Q000235:genetics*
chemical_list: C484142:WNT10A protein, human; D051153:Wnt Proteins