2. Academic Validation
  3. Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis

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

  • Fam Cancer. 2011 Mar;10(1):127-32. doi: 10.1007/s10689-010-9393-y.
Ans M W van den Ouweland 1,  Peter Elfferich,  Roy Lamping,  Raoul van de Graaf,  Monique M van Veghel-Plandsoen,  S M Franken,  A C Houweling
Affiliations

Affiliation

  • 1 Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands. [email protected]
PMID: 20972631 DOI: 10.1007/s10689-010-9393-y
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.

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