Clinical features and WNT10A mutations in seven unrelated cases of Schöpf–Schulz–Passarge syndrome. (15th October 2014)

• Record Type: Journal Article
• Authors: Tziotzios, C.; Petrof, G.; Liu, L.; Verma, A.; Wedgeworth, E.K.; Mellerio, J.E.; McGrath, J.A.
• Is Part Of: British journal of dermatology. Volume 171:Number 5(2014:Nov.)
• Page Start: 1211
• Page End: 1214
• Publication Date: 2014-10-15
• Subjects: Dermatology -- Periodicals; Skin -- Diseases -- Periodicals; 616.5
• DOI: 10.1111/bjd.13158
• Languages: English
• ISSNs: 0007-0963

Abstract

<abstract abstract-type="main" id="bjd13158-abs-0001"> <title>Summary</title> <sec id="bjd13158-sec-0001" sec-type="section"> <title>Background</title> <p>Schöpf‐Schulz‐Passarge syndrome (SSPS) is an autosomal recessive form of ectodermal dysplasia resulting from mutations in <italic>WNT10A</italic>.</p> </sec> <sec id="bjd13158-sec-0002" sec-type="section"> <title>Objectives</title> <p>To document the spectrum of clinical features and search for pathogenic mutations in seven unrelated cases of SSPS.</p> </sec> <sec id="bjd13158-sec-0003" sec-type="section"> <title>Methods</title> <p>Clinical examination of patients and Sanger sequencing of genomic DNA spanning the coding exons and flanking spice sites of <italic>WNT10A</italic>.</p> </sec> <sec id="bjd13158-sec-0004" sec-type="section"> <title>Results</title> <p>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 <italic>WNT10A</italic> 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.</p> </sec> <sec id="bjd13158-sec-0005" sec-type="section"> <title>Conclusions</title> <p>This study reveals the range of ectodermal pathology in cases of SSPS that result from <italic>WNT10A</italic> mutations. Eyelid cysts provide a useful clinical clue to diagnosing SSPS which may be less rare than is currently appreciated.</p> </sec> </abstract>