2. Academic Validation
  3. The mutation spectrum in RECQL4 diseases

The mutation spectrum in RECQL4 diseases

  • Eur J Hum Genet. 2009 Feb;17(2):151-8. doi: 10.1038/ejhg.2008.154.
H Annika Siitonen 1,  Jenni Sotkasiira,  Martine Biervliet,  Abdelmadjid Benmansour,  Yline Capri,  Valerie Cormier-Daire,  Barbara Crandall,  Katariina Hannula-Jouppi,  Raoul Hennekam,  Denise Herzog,  Kathelijn Keymolen,  Marita Lipsanen-Nyman,  Peter Miny,  Sharon E Plon,  Stefan Riedl,  Ajoy Sarkar,  Fernando R Vargas,  Alain Verloes,  Lisa L Wang,  Helena Kääriäinen,  Marjo Kestilä
Affiliations

Affiliation

  • 1 Department of Molecular Medicine, National Public Health Institute and FIMM, Institute for Molecular Medicine Finland, Helsinki, Finland.
PMID: 18716613 DOI: 10.1038/ejhg.2008.154
Abstract

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.

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