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Clinical features and WNT10A mutations in seven unrelated cases of Schöpf-Schulz-Passarge syndrome

Research output: Contribution to journalArticle

C. Tziotzios, G. Petrof, L. Liu, A. Verma, E. K. Wedgeworth, J. E. Mellerio, J. A. McGrath

Original languageEnglish
Pages (from-to)1211-1214
Number of pages4
JournalBritish Journal of Dermatology
Volume171
Issue number5
DOIs
Publication statusPublished - Nov 2014

King's Authors

Research Groups

  • King's College London

Abstract

Background
Schöpf-Schulz-Passarge syndrome (SSPS) is an autosomal recessive form of ectodermal dysplasia resulting from mutations in WNT10A.

Objectives
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.

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