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

Ans van den Ouweland, Peter Elfferich, Roy Lamping, Raoul Graaf, MM van Veghel-Plandsoen, SM Franken, AC Houweling

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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.
Original languageUndefined/Unknown
Pages (from-to)127-132
Number of pages6
JournalFamilial Cancer
Volume10
Issue number1
DOIs
Publication statusPublished - 2011

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