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.

doi:10.1186/s12863-016-0346-9

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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.

BMC genetics - 9 Feb 2016

Farkas Katalin, Deák Barbara Kocsis, Sánchez Laura Cubells, Martínez Ana Mercedes Victoria, Corell Juan José Vilata, Botella Alfredo Montoro, Benito Goitzane Marcaida, López Raquel Rodríguez, Vanecek Tomas, Kazakov Dmitry V, Kromosoeto Joan N R, van den Ouweland Ans M W, Varga János, Széll Márta, Nagy Nikoletta

Abstract excerpt

BACKGROUND: Multiple 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...

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PMID: 26861065
DOI: 10.1186/s12863-016-0346-9
PMCID: PMC4746830

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CYLD

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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.PMID 26861065Read ↗

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