The mutation spectrum in RECQL4 diseases.

European Journal of Human Genetics : EJHG
H Annika SiitonenMarjo Kestilä

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.

References

Dec 1, 1992·American Journal of Medical Genetics·F R VargasD F Reis
Apr 1, 1992·Journal of Medical Genetics·L Van MaldergemY Gillerot
Jul 1, 1989·American Journal of Medical Genetics·H KääriäinenR Norio
Jun 1, 1995·Pediatric Dermatology·M Tong
Mar 1, 1996·Clinical Genetics·N M LindorG W Dewald
Jan 2, 1996·American Journal of Medical Genetics·M M Cohen, H V Toriello
May 8, 1998·Clinical Dysmorphology·S G KantR M Winter
Jul 29, 1998·International Journal of Cancer. Journal International Du Cancer·M MiozzoL Larizza
Aug 26, 1998·American Journal of Medical Genetics·K W GrippE H Zackai
May 13, 1999·Nature Genetics·S KitaoY Furuichi
Oct 25, 2000·Clinical Dysmorphology·A MégarbanéJ Loiselet
Dec 5, 2000·American Journal of Medical Genetics·L A PujolC Cunniff
Jul 27, 2001·American Journal of Medical Genetics·L L WangS E Plon
May 23, 2002·American Journal of Human Genetics·Lisa L WangSharon E Plon
Oct 16, 2002·Mutation Research·Pauline BalrajLudovica Volpi
May 8, 2003·Journal of the National Cancer Institute·Lisa L WangSharon E Plon
Jul 3, 2003·American Journal of Medical Genetics. Part a·Alessandro BeghiniLidia Larizza
Aug 14, 2003·Human Molecular Genetics·Yuko HokiMasumi Abe
Sep 4, 2003·Human Molecular Genetics·H Annika SiitonenMarjo Kestilä
May 18, 2005·Archives of Dermatology·Richard KellermayerGyörgy Kosztolányi
Aug 24, 2006·The Biochemical Journal·Sudha SharmaRobert M Brosh
Jan 26, 2007·Gene·Lynnette M BurksSharon E Plon
Jun 16, 2007·Cellular and Molecular Life Sciences : CMLS·K Hanada, I D Hickson
Jan 12, 2008·Chromosoma·Csanád Z Bachrati, Ian D Hickson

❮ Previous
Next ❯

Citations

Nov 29, 2012·European Journal of Human Genetics : EJHG·Lidia LarizzaAlain Verloes
Sep 18, 2009·The Journal of Biological Chemistry·Christopher CappTao-shih Hsieh
Nov 1, 2011·The Journal of Biological Chemistry·Avik K GhoshVilhelm A Bohr
Jun 26, 2012·Nucleic Acids Research·Oliver OhlenschlägerHelmut Pospiech
Nov 9, 2011·Molecular and Cellular Biology·Lynda M GroocockMichael N Boddy
May 3, 2012·Sarcoma·George T CalvertJoshua D Schiffman
Feb 2, 2010·Orphanet Journal of Rare Diseases·Lidia LarizzaLudovica Volpi
Apr 11, 2013·PloS One·Julia M LauperRaymond J Monnat
Apr 30, 2013·Biophysical Chemistry·Francesca MarinoSilvia Onesti
Mar 13, 2014·Annual Review of Biochemistry·Deborah L CroteauVilhelm A Bohr
Jun 25, 2014·The Journal of Clinical Investigation·Monique F SmeetsCarl R Walkley
Nov 5, 2010·Annual Review of Genetics·Kara A BernsteinRodney Rothstein
Jun 20, 2014·Carcinogenesis·Raghavendra A ShamannaVilhelm A Bohr
May 20, 2015·International Journal of Molecular Sciences·Lin Ding, Yilun Liu
Dec 23, 2015·The Journal of Pathology·Arvind AroraSrinivasan Madhusudan
Sep 4, 2012·Trends in Genetics : TIG·Deborah L CroteauVilhelm A Bohr
Oct 12, 2010·Seminars in Cancer Biology·Raymond J Monnat
Mar 27, 2015·The Journal of Investigative Dermatology·Raymond J Monnat
Jun 25, 2014·Proceedings of the National Academy of Sciences of the United States of America·Giang Huong NguyenCurtis C Harris
Mar 16, 2016·European Journal of Medical Genetics·Jutte van der Werff Ten Bosch, Machiel van den Akker
Jan 30, 2009·The EMBO Journal·Xiaohua Xu, Yilun Liu
Feb 3, 2012·Aging Cell·Deborah L CroteauVilhelm A Bohr
Mar 15, 2015·DNA Repair·Hana SedlackovaLumir Krejci
Jul 23, 2014·Critical Reviews in Biochemistry and Molecular Biology·Guido KeijzersVilhelm A Bohr
Jun 13, 2015·Case Reports in Immunology·M M G VollebregtJ E van der Werff Ten Bosch
Aug 14, 2012·Biochimica Et Biophysica Acta·Deborah L CroteauVilhelm A Bohr
Jun 2, 2016·Molecular Genetics & Genomic Medicine·Aude-Annick SuterSabina Gallati
Jun 12, 2016·Ageing Research Reviews·Linchao LuLisa L Wang
Jun 21, 2016·Cell Reports·Huiming LuVilhelm A Bohr
Nov 20, 2016·Human Mutation·Wenqing FuRaymond J Monnat
May 26, 2016·Genetics and Molecular Biology·Anna Claudia Evangelista Dos SantosFernando Regla Vargas
Jul 11, 2009·The Journal of Bone and Joint Surgery. American Volume·Esther de Graaff, Scott H Kozin
Dec 14, 2017·Journal of Cellular Biochemistry·Mannu K WaliaCarl R Walkley
Aug 9, 2013·Therapeutic Advances in Hematology·Elliot Stieglitz, Mignon L Loh
Apr 19, 2018·Advances in Anatomic Pathology·Meera Hameed, Diana Mandelker

❮ Previous
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