Clinical features and WNT 10A mutations in seven unrelated cases of Schöpf–Schulz–Passarge syndrome
| العنوان: | Clinical features and |
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| المؤلفون: | Gabriela Petrof, John A. McGrath, Emma Wedgeworth, Lin Liu, A. Verma, Jemima E. Mellerio, Christos Tziotzios |
| المصدر: | British Journal of Dermatology. 171:1211-1214 |
| بيانات النشر: | Oxford University Press (OUP), 2014. |
| سنة النشر: | 2014 |
| مصطلحات موضوعية: | Adult, Male, Heterozygote, Ectodermal dysplasia, Pathology, medicine.medical_specialty, Dermatology, Eccrine Glands, Biology, Eyelid Neoplasms, Hypotrichosis, symbols.namesake, Exon, Keratoderma, Palmoplantar, medicine, Humans, Keratoderma, Anodontia, Sanger sequencing, Middle Aged, medicine.disease, Wnt Proteins, genomic DNA, Palmoplantar keratoderma, medicine.anatomical_structure, Schöpf–Schulz–Passarge syndrome, Mutation, symbols, Female, Eyelid |
| الوصف: | Summary Background Schopf-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. |
| تدمد: | 1365-2133 0007-0963 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51d37624bb56da1fcdcdda103b319d1f https://doi.org/10.1111/bjd.13158 |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi.dedup.....51d37624bb56da1fcdcdda103b319d1f |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 13652133 00070963 |
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