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Familial Cancer
Published in: Familial Cancer 1/2011

Open Access 01-03-2011

Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis

Authors: Ans M. W. van den Ouweland, Peter Elfferich, Roy Lamping, Raoul van de Graaf, Monique M. van Veghel-Plandsoen, S. M. Franken, A. C. Houweling

Published in: Familial Cancer | Issue 1/2011

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Abstract

Pathogenic mutations in CYLD can be identified in patients affected with Brooke-Spiegler syndrome, (Familial) Cylindromatosis or multiple familial trichoepithelioma. To date, only technologies which are able to identify small point mutations in CYLD, such as sequence and WAVE analysis, were used. Here we describe the identification of a larger rearrangement identified by Quantitative PCR analysis of CYLD, indicating that a combination of these technologies is necessary when searching for pathogenic mutations in CYLD.
Literature
1.
Welch JP, Wells RS, Kerr CB (1968) Ancell-Spiegler cylindromas (turban tumours), Brooke-Fordyce Trichoepitheliomas: evidence for a single genetic entity. J Med Genet 5(1):29–35CrossRefPubMed
2.
Young AL, Kellermayer R, Szigeti R, Teszas A, Azmi S, Celebi JT (2006) CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, multiple familial trichoepithelioma syndromes. Clin Genet 70(3):246–249CrossRefPubMed
3.
Oranje AP, Halley D, den Hollander JC et al (2008) Multiple familial trichoepithelioma, familial cylindroma: one cause!. J Eur Acad Dermatol Venereol 22(11):1395–1396CrossRefPubMed
4.
Biggs PJ, Wooster R, Ford D et al (1995) Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12–q13: evidence for its role as a tumour suppressor gene. Nat Genet 11(4):441–443CrossRefPubMed
5.
Takahashi M, Rapley E, Biggs PJ et al (2000) Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity, refine the CYLD locus on chromosome 16q12–q13. Hum Genet 106(1):58–65CrossRefPubMed
6.
Bignell GR, Warren W, Seal S et al (2000) Identification of the familial cylindromatosis tumour-suppressor gene. Nat Genet 25(2):160–165CrossRefPubMed
7.
Blake PW, Toro JR (2009) Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling. Hum Mutat 30(7):1025–1036CrossRefPubMed
8.
Kazakov DV, Thoma-Uszynski S, Vanecek T, Kacerovska D, Grossmann P, Michal M (2009) A case of Brooke-Spiegler syndrome with a novel germline deep intronic mutation in the CYLD gene leading to intronic exonization, diverse somatic mutations, unusual histology. Am J Dermatopathol 31(7):664–673CrossRefPubMed
9.
Saggar S, Chernoff KA, Lodha S et al (2008) CYLD mutations in familial skin appendage tumours. J Med Genet 45(5):298–302CrossRefPubMed
10.
Zhang XJ, Liang YH, He PP et al (2004) Identification of the cylindromatosis tumor-suppressor gene responsible for multiple familial trichoepithelioma. J Invest Dermatol 122(3):658–664CrossRefPubMed
11.
Zhang G, Huang Y, Yan K et al (2006) Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene. Exp Dermatol 15(12):966–970CrossRefPubMed
12.
Brummelkamp TR, Nijman SM, Dirac AM, Bernards R (2003) Loss of the cylindromatosis tumour suppressor inhibits apoptosis by activating NF-kappaB. Nature 424(6950):797–801CrossRefPubMed
13.
Trompouki E, Hatzivassiliou E, Tsichritzis T, Farmer H, Ashworth A, Mosialos G (2003) CYLD is a deubiquitinating enzyme that negatively regulates NF-kappaB activation by TNFR family members. Nature 424(6950):793–796CrossRefPubMed
14.
Xue L, Igaki T, Kuranaga E, Kanda H, Miura M, Xu T (2007) Tumor suppressor CYLD regulates JNK-induced cell death in Drosophila. Dev Cell 13(3):446–454CrossRefPubMed
15.
Biggs PJ, Chapman P, Lakhani SR, Burn J, Stratton MR (1996) The cylindromatosis gene (cyld1) on chromosome 16q may be the only tumour suppressor gene involved in the development of cylindromas. Oncogene 12(6):1375–1377PubMed
16.
Thomson SA, Rasmussen SA, Zhang J, Wallace MR (1999) A new hereditary cylindromatosis family associated with CYLD1 on chromosome 16. Hum Genet 105(1–2):171–173PubMed
17.
Leonard N, Chaggar R, Jones C, Takahashi M, Nikitopoulou A, Lakhani SR (2001) Loss of heterozygosity at cylindromatosis gene locus, CYLD, in sporadic skin adnexal tumours. J Clin Pathol 54(9):689–692PubMed
18.
De Luca A, Bottillo I, Dasdia MC et al (2007) Deletions of NF1 gene, exons detected by multiplex ligation-dependent probe amplification. J Med Genet 44(12):800–808CrossRefPubMed
19.
Kozlowski P, Roberts P, Dabora S et al (2007) Identification of 54 large deletions/duplications in TSC1, TSC2 using MLPA, genotype-phenotype correlations. Hum Genet 121(3–4):389–400CrossRefPubMed
20.
van den Ouweland AM, Dinjens WN, Dorssers LC et al (2009) Deletion of exons 1a–2 of BRCA1: a rather frequent pathogenic abnormality. Genet Test Mol Biomarkers 13(3):399–406CrossRefPubMed
21.
Ugozzoli LA, Latorra D, Puckett R, Arar K, Hamby K (2004) Real-time genotyping with oligonucleotide probes containing locked nucleic acids. Anal Biochem 324(1):143–152CrossRefPubMed
22.
Komander D, Lord CJ, Scheel H et al (2008) The structure of the CYLD USP domain explains its specificity for Lys63-linked polyubiquitin and reveals a B box module. Mol cell 29(4):451–464CrossRefPubMed
23.
24.
Anderson DE, Howell JB (1976) Epitheliomaadenoides cysticum: genetic update. Br J Dermatol 95(3):225–232CrossRefPubMed
Metadata
Title
Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis
Authors
Ans M. W. van den Ouweland
Peter Elfferich
Roy Lamping
Raoul van de Graaf
Monique M. van Veghel-Plandsoen
S. M. Franken
A. C. Houweling
Publication date
01-03-2011
Publisher
Springer Netherlands
Published in
Familial Cancer / Issue 1/2011
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI
https://doi.org/10.1007/s10689-010-9393-y

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