1. ¹Department of Molecular Medicine, National Public Health Institute and FIMM, Institute for Molecular Medicine Finland, Helsinki, Finland
2. ²Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
3. ³General Pediatrician, 35, rue de Mostaganem, Oran, Algeria
4. ⁴Department of Medical Genetics and INSERM, CIC501, Hôtel-Dieu, Clermont Ferrand, France
5. ⁵Department of Medical Genetics and INSERM U 781, Hopital NeckerEnfants Malades, Paris, France
6. ⁶Departments of Pediatrics and Psychiatry, David Geffen School of Medicine, University of California, Los Angeles, CA, USA
7. ⁷Department of Medical Genetics, University of Helsinki, Helsinki, Finland
8. ⁸Clinical and Molecular Genetics Unit, Institute of Child Health, London, UK
9. ⁹Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands
10. ¹⁰Department of Pediatrics, University of Montreal, Montreal, Canada
11. ¹¹Center Medical Genetics, UZ Brussel, Brussels, Belgium
12. ¹²Children's Hospital, University of Helsinki, Helsinki, Finland
13. ¹³Division of Medical Genetics, University Children's Hospital, Basel, Switzerland
14. ¹⁴Departments of Human and Molecular Genetics and Pediatrics, Section of Hematology/Oncology, Texas Children's Cancer Center, Baylor College of Medicine, Houston, TX, USA
15. ¹⁵St Anna Children's Hospital, Vienna, Austria
16. ¹⁶Clinical and Molecular Genetics Unit, Institute of Child Health and Great Ormond Street Hospital for Children, UCL, London, UK
17. ¹⁷Genetics Division, Instituto Nacional de Câncer, Universidade Federal do Estado do Rio de Janeiro, Rio de Janeiro, Brazil
18. ¹⁸Department of Genetics, APHP Robert Debré University Hospital, Paris, France
19. ¹⁹Department of Pediatrics, Section of Hematology/Oncology, Texas Children's Cancer Center, Baylor College of Medicine, Houston, TX, USA
20. ²⁰Department of Medical Genetics, University of Turku, Turku, Finland

Correspondence: Dr M Kestilä, Department of Molecular Medicine, National Public Health Institute and FIMM, Institute for Molecular Medicine Finland, Biomedicum Helsinki, Helsinki 00290, Finland. Tel: +358 9474 487 23; Fax: +358 947 448 480; E-mail: marjo.kestila@ktl.fi

Received 4 March 2008; Revised 23 July 2008; Accepted 24 July 2008; Published online 20 August 2008.

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.