The British journal of dermatology · 2014
Clinical features and WNT10A mutations in seven unrelated cases of Schöpf-Schulz-Passarge syndrome.
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Tziotzios C, Petrof G, Liu L, Verma A, Wedgeworth E K, Mellerio J E, McGrath J A
Аннотация
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.
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.