The mutation spectrum in RECQL4 diseases
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; Verläes, Alain; Wang, Lisa L; Kriinen, Helena; Kestil, Marjo.
Eur J Hum Genet
; 17: 151-158, 2008. tab
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| TXTC | ID: txt-24645
Mutations in the RECQL4 gene can lead to three clinical phenotypes with overlapping features. All thesesyndromes, RothmundThomson (RTS), RAPADILINO and BallerGerold (BGS), are characterized by growthretardation and radial defects, but RAPADILINO syndrome lacks themain dermalmanifestation, poikilodermathat is a hallmark feature in both RTS and BGS. It has been previously shown that RTS patients with RECQL4mutations are at increased risk of osteosarcoma, but the precise incidence of cancer in RAPADILINO andBGS has not been determined. Here, we report that RAPADILINO patients identified as carriers of thec.1390ç2delT 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 associatedcancer cases and provide an update of 14 novel RECQL4 mutations with accompanying clinical data.(AU)
Biblioteca responsable:
BR440.1
Ubicación: BR440.1
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