A mutational hotspot in CYLD causing cylindromas: A comparison of phenotypes arising in different genetic backgrounds

N. Nagy, Neil Rajan, Katalin Farkas, Ágnes Kinyó, L. Kemény, M. Széll

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Brooke-Spiegler syndrome (BSS; OMIM 605041) has been described as an autosomal dominant disease characterized by the development of a wide variety and number of skin appendage tumours not commonly found in the general population, such as cylindromas, trichoepitheliomas and spiradenomas (1, 2). The tumours grow slowly in size and number throughout life and may give rise to a large confluent mass on the head, historically referred to as turban tumours (1, 2). The gene responsible for BSS, the cylindromatosis gene (CYLD), is localized on 16q12-q13 (2). So far more than 79 mutations have been identified, with clustering at the 3′ end of the CYLD gene, which encodes for the catalytic (exons 8-20) (3, 4). These mutations have been identified in patients with phenotypic features of either BSS, familial cylindromatosis (FC; OMIM 132700) or multiple familial trichoepithelioma type 1 (MFT1; OMIM 601606), suggesting that these 3 syndromes are phenotypic variations of the same genetic disease (5, 6). A Hungarian pedigree from Bukovina (Romania) affected by BSS and an English pedigree from northern England were included in this study.

Original languageEnglish
Pages (from-to)743-745
Number of pages3
JournalActa Dermato-Venereologica
Volume93
Issue number6
DOIs
Publication statusPublished - 2013

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Adenoid Cystic Carcinoma
Genetic Databases
Phenotype
Pedigree
Genes
Romania
Mutation
Inborn Genetic Diseases
England
Cluster Analysis
Exons
Neoplasms
Head
Skin
Genetic Background
Familial cylindromatosis
Population

ASJC Scopus subject areas

  • Dermatology

Cite this

A mutational hotspot in CYLD causing cylindromas : A comparison of phenotypes arising in different genetic backgrounds. / Nagy, N.; Rajan, Neil; Farkas, Katalin; Kinyó, Ágnes; Kemény, L.; Széll, M.

In: Acta Dermato-Venereologica, Vol. 93, No. 6, 2013, p. 743-745.

Research output: Contribution to journalArticle

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