title: The mutation spectrum in RECQL4 diseases.
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.
authors: Department of Molecular Medicine, National Public Health Institute and FIMM, Institute for Molecular Medicine Finland, Helsinki, Finland.
authors: H Annika
authors: HA
authors: Siitonen
authors: Jenni
authors: J
authors: Sotkasiira
authors: Martine
authors: M
authors: Biervliet
authors: Abdelmadjid
authors: A
authors: Benmansour
authors: Yline
authors: Y
authors: Capri
authors: Valerie
authors: V
authors: Cormier-Daire
authors: Barbara
authors: B
authors: Crandall
authors: Katariina
authors: K
authors: Hannula-Jouppi
authors: Raoul
authors: R
authors: Hennekam
authors: Denise
authors: D
authors: Herzog
authors: Kathelijn
authors: K
authors: Keymolen
authors: Marita
authors: M
authors: Lipsanen-Nyman
authors: Peter
authors: P
authors: Miny
authors: Sharon E
authors: SE
authors: Plon
authors: Stefan
authors: S
authors: Riedl
authors: Ajoy
authors: A
authors: Sarkar
authors: Fernando R
authors: FR
authors: Vargas
authors: Alain
authors: A
authors: Verloes
authors: Lisa L
authors: LL
authors: Wang
authors: Helena
authors: H
authors: Kääriäinen
authors: Marjo
authors: M
authors: Kestilä
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D020022:Genetic Predisposition to Disease; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008223:Lymphoma / Q000235:genetics*; D012516:Osteosarcoma / Q000235:genetics*; D053484:RecQ Helicases / Q000235:genetics*; D011038:Rothmund-Thomson Syndrome / Q000235:genetics*; D013577:Syndrome; D055815:Young Adult
chemical_list: C506731:RECQL4 protein, human; D053484:RecQ Helicases