The mutation spectrum in RECQL4 diseases.
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.
Siitonen
H Annika
HA
Department of Molecular Medicine, National Public Health Institute and FIMM, Institute for Molecular Medicine Finland, Helsinki, Finland.
Sotkasiira
Jenni
J
Biervliet
Martine
M
Benmansour
Abdelmadjid
A
Capri
Yline
Y
Cormier-Daire
Valerie
V
Crandall
Barbara
B
Hannula-Jouppi
Katariina
K
Hennekam
Raoul
R
Herzog
Denise
D
Keymolen
Kathelijn
K
Lipsanen-Nyman
Marita
M
Miny
Peter
P
Plon
Sharon E
SE
Riedl
Stefan
S
Sarkar
Ajoy
A
Vargas
Fernando R
FR
Verloes
Alain
A
Wang
Lisa L
LL
Kääriäinen
Helena
H
Kestilä
Marjo
M
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
C506731:RECQL4 protein, human; D053484:RecQ Helicases