The mutation spectrum in RECQL4 diseases

Siitonen, H. A. and Sotkasiira, J. and Biervliet, M. and Benmansour, A. and Capri, Y. and Cormier-Daire, V. and Crandall, B. and Hannula-Jouppi, K. and Hennekam, R. and Herzog, D. and Keymolen, K. and Lipsanen-Nyman, M. and Miny, P. and Plon, S. E. and Riedl, S. and Sarkar, A. and Vargas, F. R. and Verloes, A. and Wang, L. L. and Kääriäinen, H. and Kestilä, M.. (2009) The mutation spectrum in RECQL4 diseases. European journal of human genetics : EJHG : the official journal of the European Society of Human Genetics, Vol. 17. pp. 151-158.

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Official URL: http://edoc.unibas.ch/dok/A6002852

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Mutations in the RECQL4 gene can lead to three clinical phenotypes with overlapping features. All these syndromes, Rothmund-Thomson (RTS), RAPADILINO and Baller-Gerold (BGS), are characterized by growth retardation and radial defects, but RAPADILINO syndrome lacks the main dermal manifestation, poikiloderma that is a hallmark feature in both RTS and BGS. It has been previously shown that RTS patients with RECQL4 mutations are at increased risk of osteosarcoma, but the precise incidence of cancer in RAPADILINO and BGS has not been determined. Here, we report that RAPADILINO patients identified as carriers of the c.1390+2delT mutation (p.Ala420_Ala463del) are at increased risk to develop lymphoma or osteosarcoma (6 out of 15 patients). We also summarize all the published RECQL4 mutations and their associated cancer cases and provide an update of 14 novel RECQL4 mutations with accompanying clinical data.European Journal of Human Genetics (2009) 17, 151-158; doi:10.1038/ejhg.2008.154; published online 20 August 2008.
Faculties and Departments:03 Faculty of Medicine > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Pädiatrie (Frey)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Pädiatrie (Frey)
UniBasel Contributors:Miny, Peter
Item Type:Article, refereed
Article Subtype:Research Article
Publisher:Nature Publishing Group
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:24 May 2013 09:22
Deposited On:24 May 2013 09:05

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