title: A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome.
abstract: Brooke-Spiegler syndrome (BSS, familial cylindromatosis or turban tumor syndrome) is an inherited disease characterized by neoplasms of the skin appendages such as cylindroma, trichoepithelioma, and spiradenoma. The disease has been mapped to 16q12-13, and mutations in the CYLD gene have been identified in families with this disorder. Of interest, multiple familial trichoepithelioma (MFT) has been described as a distinct disorder characterized by the familial occurrence of trichoepitheliomas. MFT has been mapped to 9p21; however, to date a candidate gene has not been identified. In this report, we describe a four-generation family with BSS presenting predominantly with trichoepitheliomas (resembling MFT phenotype). We identified a novel missense mutation in the CYLD gene, designated E474G, in the affected individuals of this family. Our findings exemplify clinical heterogeneity within BSS and extend the body of evidence that mutations in CYLD are implicated in this disease. Although not conclusive, these findings suggest that BSS and MFT may represent a single entity.
authors: Department of Dermatology, Columbia University, New York, New York 10032, USA.
authors: Guofang
authors: G
authors: Hu
authors: Meltem
authors: M
authors: Onder
authors: Melissa
authors: M
authors: Gill
authors: Burhan
authors: B
authors: Aksakal
authors: Murat
authors: M
authors: Oztas
authors: M Ali
authors: MA
authors: Gürer
authors: Jülide Tok
authors: JT
authors: Celebi
mesh_terms: D003528:Carcinoma, Adenoid Cystic / Q000235:genetics*; D018280:Carcinoma, Skin Appendage / Q000235:genetics*; D000074749:Deubiquitinating Enzyme CYLD; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D012878:Skin Neoplasms / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D025521:Tumor Suppressor Proteins; C409984:CYLD protein, human; D000074749:Deubiquitinating Enzyme CYLD