The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the geneReport as inadecuate




The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene - Download this document for free, or read online. Document in PDF available to download.

BMC Genetics

, 17:36

Human population genetics

Abstract

BackgroundMultiple familial trichoepithelioma type 1 MFT1; MIM 601606, a rare monogenic skin disease with autosomal dominant inheritance, is characterized by the development of multiple skin-colored papules on the central area of the face, frequently occurring in the nasolabial area. The disease is associated with various mutations in the cylindromatosis CYLD; MIM 605018 gene that are also responsible for familial cylindromatosis FC and Brooke-Spiegler syndrome BSS.

MethodsRecently we have identified a Spanish MFT1 pedigree with two affected family members father and daughter. Direct sequencing of the CYLD gene revealed a worldwide recurrent heterozygous nonsense mutation c.2272C-T, p.R758X in the patients.

ResultsThis mutation has already been detected in patients with all three clinical variants – BSS, FC and MFT1 – of the CYLD-mutation spectrum. Haplotype analysis was performed for the Spanish patients with MFT1, Dutch patients with FC and an Austrian patient with BSS, all of whom carry the same heterozygous nonsense p.R758X CYLD mutation.

ConclusionsOur results indicate that this position is a mutational hotspot on the gene and that patients carrying the mutation exhibit high phenotypic diversity.

KeywordsMultiple familial trichoepithelioma type 1 Familial cylindromatosis Brooke-Spiegler syndrome Worldwide recurrent mutation Haplotype analysis AbbreviationsMFT1Multiple familial trichoepithelioma type 1

FCfamilial cylindromatosis

BSSBrooke-Spiegler syndrome

CYLDcylindromatosis gene

TRAF2TNF receptor-associated factor 2

TRAF6TNF receptor-associated factor 6

NEMONF-kappa-B essential modulator

BCL3B-cell lymphoma 3-encoded protein

NF-κBnuclear factor kappa-light-chain-enhancer of activated B cells

Electronic supplementary materialThe online version of this article doi:10.1186-s12863-016-0346-9 contains supplementary material, which is available to authorized users.

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Author: Katalin Farkas - Barbara Kocsis Deák - Laura Cubells Sánchez - Ana Mercedes Victoria Martínez - Juan José Vilata Co

Source: https://link.springer.com/



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