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2009:
Siitonen H Annika; Sotkasiira Jenni; Biervliet Martine; Benmansour Abdelmadjid; Capri Yline; Cormier-Daire Valerie; Crandall Barbara; Hannula-Jouppi Katariina; Hennekam Raoul; Herzog Denise; Keymolen Kathelijn; Lipsanen-Nyman Marita; Miny Peter; Plon Sharon E; Riedl Stefan; Sarkar Ajoy; Vargas Fernando R; Verloes Alain; Wang Lisa L; Kääriäinen Helena; Kestilä Marjo
The mutation spectrum in RECQL4 diseases.
European journal of human genetics : EJHG 2009;
17(
2):.
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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