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

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. He...

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Autores principales: van den Ouweland, Ans M. W., Elfferich, Peter, Lamping, Roy, van de Graaf, Raoul, van Veghel-Plandsoen, Monique M., Franken, S. M., Houweling, A. C.
Formato: Texto
Lenguaje:English
Publicado: Springer Netherlands 2010
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3036809/
https://www.ncbi.nlm.nih.gov/pubmed/20972631
http://dx.doi.org/10.1007/s10689-010-9393-y
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author van den Ouweland, Ans M. W.
Elfferich, Peter
Lamping, Roy
van de Graaf, Raoul
van Veghel-Plandsoen, Monique M.
Franken, S. M.
Houweling, A. C.
author_facet van den Ouweland, Ans M. W.
Elfferich, Peter
Lamping, Roy
van de Graaf, Raoul
van Veghel-Plandsoen, Monique M.
Franken, S. M.
Houweling, A. C.
author_sort van den Ouweland, Ans M. W.
collection PubMed
description 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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spelling pubmed-30368092011-03-16 Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis van den Ouweland, Ans M. W. Elfferich, Peter Lamping, Roy van de Graaf, Raoul van Veghel-Plandsoen, Monique M. Franken, S. M. Houweling, A. C. Fam Cancer Article 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. Springer Netherlands 2010-10-23 2011 /pmc/articles/PMC3036809/ /pubmed/20972631 http://dx.doi.org/10.1007/s10689-010-9393-y Text en © The Author(s) 2010 https://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited.
spellingShingle Article
van den Ouweland, Ans M. W.
Elfferich, Peter
Lamping, Roy
van de Graaf, Raoul
van Veghel-Plandsoen, Monique M.
Franken, S. M.
Houweling, A. C.
Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis
title Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis
title_full Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis
title_fullStr Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis
title_full_unstemmed Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis
title_short Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis
title_sort identification of a large rearrangement in cyld as a cause of familial cylindromatosis
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3036809/
https://www.ncbi.nlm.nih.gov/pubmed/20972631
http://dx.doi.org/10.1007/s10689-010-9393-y
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