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Identification of putative phenotype-modifying genetic factors associated with phenotypic diversity in Brooke-Spiegler syndrome

Lookup NU author(s): Professor Neil RajanORCiD


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© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons LtdBrooke-Spiegler syndrome (BSS, OMIM 605041) is a rare monogenic skin disease characterized by the development of skin appendage tumors caused by mutations in the cylindromatosis gene. We recently investigated a Hungarian and an Anglo-Saxon pedigrees affected by Brooke-Spiegler syndrome. Despite carrying the same disease-causing mutation (c.2806C>T, p.Arg936X) of the cylindromatosis (CYLD) gene, the affected family members of the two pedigrees exhibit striking differences in their phenotypes. To identify phenotype-modifying genetic factors, whole exome sequencing was performed and the data from the Hungarian and Anglo-Saxon BSS patients were compared. Three putative phenotype-modifying genetic variants were identified: the rs1053023 SNP of the signal transducer and activator of transcription 3 (STAT3) gene, the rs1131877 SNP of the tumor necrosis factor receptor-associated factor 3 (TRAF3) gene and the rs202122812 SNP of the neighbour of BRCA1 gene 1 (NBR1) gene. Our study contributes to the accumulating evidence for the clinical importance of phenotype-modifying genetic factors, which are potentially important for the elucidation of disease prognosis.

Publication metadata

Author(s): Pap EM, Farkas K, Szell M, Nemeth G, Rajan N, Nagy N

Publication type: Article

Publication status: Published

Journal: Experimental Dermatology

Year: 2020

Volume: 29

Issue: 10

Pages: 1017-1020

Print publication date: 01/10/2020

Online publication date: 03/08/2020

Acceptance date: 27/07/2020

ISSN (print): 0906-6705

ISSN (electronic): 1600-0625

Publisher: Blackwell Publishing Ltd


DOI: 10.1111/exd.14161

PubMed id: 32744342


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