176 Identification of putative phenotype-modifying genetic factors associated with phenotypic diversity in Brooke-Spiegler syndrome
نویسندگان
چکیده
Brooke-Spiegler syndrome (BSS; OMIM 605041) is a rare monogenic skin disease characterized by the development of appendage tumors caused mutations in cylindromatosis (CYLD) gene. Despite described phenotypes and reports underlying CYLD mutations, it has been difficult to establish genotype–phenotype correlations BSS. We recently investigated two BSS pedigrees (Hungarian with Bukovinian origin Anglo-Saxon), which affected family members exhibit striking differences their — despite carrying same disease-causing mutation (c.2806C>T, p.Arg936Ter) The aim our study was identify phenotype- modifying genetic factors further understanding In comparison whole exome sequencing data from Hungarian Anglo-Saxon patients, we have identified three putative phenotype-modifying variants: rs1053023 SNP signal transducer activator transcription 3 (STAT3) gene, rs1131877 tumor necrosis factor receptor-associated (TRAF3) gene rs202122812 neighbor BRCA1 1 (NBR1) Our contributes accumulating evidence for clinical importance factors, are potentially important elucidation prognosis.
منابع مشابه
Brooke-spiegler syndrome
BrookeSpiegler syndrome is an uncommon autosomal dominant disorder, only few cases have been reported. Herein, we report a patient with this rare condition. A 26 year old woman with Brooke-Spiegler syndrome (BSS) has multiple cutaneous adenxal neoplasms on her face and scalp. Clinical features, histopathogical spectrum, pathogenesis, malignant transformation and treatment modalities are reviewe...
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Brooke-Spiegler syndrome is a rare entity. It is an autosomal dominant syndrome in which multiple trichoepitheliomas, cylindromas, or other adnexal tumors are seen. Very few cases of Brooke-Spiegler syndrome are reported in the literature. We came across a 40 -year-old female in which multiple trichoepitheliomas and cylindromas were seen on scalp. In view of clinical history and histopathologic...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2021
ISSN: ['1523-1747', '0022-202X']
DOI: https://doi.org/10.1016/j.jid.2021.08.180