Clinical features and WNT10A mutations in seven unrelated cases of Schöpf-Schulz-Passarge syndrome.
Br J Dermatol
; 171(5): 1211-4, 2014 Nov.
Article
em En
| MEDLINE
| ID: mdl-24902757
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ceratodermia Palmar e Plantar
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Glândulas Écrinas
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Proteínas Wnt
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Neoplasias Palpebrais
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Hipotricose
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Anodontia
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Mutação
Limite:
Adult
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Br J Dermatol
Ano de publicação:
2014
Tipo de documento:
Article
País de afiliação:
Reino Unido