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Schöpf–Schulz–Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A
Author(s) -
Petrof Gabriela,
Fong Kenneth,
LaiCheong Joey E,
Cockayne Sarah E,
McGrath John A
Publication year - 2011
Publication title -
australasian journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.67
H-Index - 53
eISSN - 1440-0960
pISSN - 0004-8380
DOI - 10.1111/j.1440-0960.2011.00788.x
Subject(s) - ectodermal dysplasia , medicine , nonsense mutation , dysplasia , nonsense , mutation , genetics , gene , pathology , dermatology , biology , missense mutation
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.