This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Salhi, A. Articles by Grzeschik, K.-H. Search for Related Content PubMed PubMed Citation Articles by Salhi, A. Articles by Grzeschik, K.-H.

Multiple Familial Trichoepithelioma Caused by Mutations in the Cylindromatosis Tumor Suppressor Gene

¹ Department of Dermatology, University of Algiers, Algiers, Algeria; Departments of ² Human Genetics and ³ Dermatology, Philipp University, Marburg, Germany; and ⁴ Department of Dermatology, Université Louis Pasteur, Strasbourg, France

The recessive oncogene cylindromatosis (CYLD) mapping on 16q12-q13 is generally implicated in familial cylindromatosis, whereas a gene region for multiple familial trichoepithelioma has been assigned to 9p21. Markers from both chromosome intervals were subjected to linkage analysis in a large family with multiple hereditary trichoepithelioma (TE) from Algeria. Linkage to 9p21 was excluded, whereas CYLD remained as a candidate. Mutation analysis identified a single bp germ-line deletion expected to result in truncation or absence of the encoded protein, which segregated with the multiple TE phenotype. In individual tumors, loss of heterozygosity at 16q or a somatic point mutation in the CYLD gene was detected. Hence, mutations of the tumor suppressor gene CYLD at 16q12-q13 may give rise to familial TE indistinguishable from the phenotype assigned to 9p21.

This article has been cited by other articles:

				N. Rajan, J. A. A. Langtry, A. Ashworth, C. Roberts, P. Chapman, J. Burn, and A. H. Trainer Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations: Implications for Disease Management and Tumor Induction Arch Dermatol, November 1, 2009; 145(11): 1277 - 1284. [Abstract] [Full Text] [PDF]

				S Saggar, K A Chernoff, S Lodha, L Horev, S Kohl, R S Honjo, H R C Brandt, K Hartmann, and J T Celebi CYLD mutations in familial skin appendage tumours J. Med. Genet., May 1, 2008; 45(5): 298 - 302. [Abstract] [Full Text] [PDF]