caa a22 4500 445330635 CHVBK 20180317142736.0 cr unu---uuuuu 170323e20110301xx s 000 0 eng 10.1007/s10689-010-9393-y doi (NATIONALLICENCE)springer-10.1007/s10689-010-9393-y Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis [Elektronische Daten] [Ans van den Ouweland, Peter Elfferich, Roy Lamping, Raoul van de Graaf, Monique van Veghel-Plandsoen, S. Franken, A. Houweling] 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. The Author(s), 2010 CYLD nationallicence Familial cylindromatosis nationallicence Large rearrangement nationallicence Mutation analysis nationallicence Q-PCR analysis nationallicence van den Ouweland Ans Department of Clinical Genetics, Erasmus Medical Center, P.O. Box 2040, 3000 CA, Rotterdam, The Netherlands aut Elfferich Peter Department of Clinical Genetics, Erasmus Medical Center, P.O. Box 2040, 3000 CA, Rotterdam, The Netherlands aut Lamping Roy Department of Clinical Genetics, Erasmus Medical Center, P.O. Box 2040, 3000 CA, Rotterdam, The Netherlands aut van de Graaf Raoul Department of Clinical Genetics, Erasmus Medical Center, P.O. Box 2040, 3000 CA, Rotterdam, The Netherlands aut van Veghel-Plandsoen Monique Department of Clinical Genetics, Erasmus Medical Center, P.O. Box 2040, 3000 CA, Rotterdam, The Netherlands aut Franken S. Department of Dermatology, VU University Medical Center, Amsterdam, The Netherlands aut Houweling A. Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands aut Familial Cancer Springer Netherlands 10/1(2011-03-01), 127-132 1389-9600 10:1<127 2011 10 10689 https://doi.org/10.1007/s10689-010-9393-y text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10689-010-9393-y text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- van den Ouweland Ans Department of Clinical Genetics, Erasmus Medical Center, P.O. Box 2040, 3000 CA, Rotterdam, The Netherlands aut NATIONALLICENCE 700 1- Elfferich Peter Department of Clinical Genetics, Erasmus Medical Center, P.O. Box 2040, 3000 CA, Rotterdam, The Netherlands aut NATIONALLICENCE 700 1- Lamping Roy Department of Clinical Genetics, Erasmus Medical Center, P.O. Box 2040, 3000 CA, Rotterdam, The Netherlands aut NATIONALLICENCE 700 1- van de Graaf Raoul Department of Clinical Genetics, Erasmus Medical Center, P.O. Box 2040, 3000 CA, Rotterdam, The Netherlands aut NATIONALLICENCE 700 1- van Veghel-Plandsoen Monique Department of Clinical Genetics, Erasmus Medical Center, P.O. Box 2040, 3000 CA, Rotterdam, The Netherlands aut NATIONALLICENCE 700 1- Franken S. Department of Dermatology, VU University Medical Center, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Houweling A. Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands aut NATIONALLICENCE 773 0- Familial Cancer Springer Netherlands 10/1(2011-03-01), 127-132 1389-9600 10:1<127 2011 10 10689 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer