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Simpson–Golabi–Behmel syndrome: a prenatal diagnosis in a foetus with GPC3 and GPC4 gene microduplications

2016; Wiley; Volume: 90; Issue: 1 Linguagem: Inglês

10.1111/cge.12725

1399-0004

Faris Mujezinović, Danijela Krgović, Ana Blatnik, Boris Zagradišnik, TV Vipotnik, TČ Golec, N. Tul, Nadja Kokalj Vokač,

Tumors and Oncological Cases

Clinical GeneticsVolume 90, Issue 1 p. 99-101 LETTER TO THE EDITOR Simpson–Golabi–Behmel syndrome: a prenatal diagnosis in a foetus with GPC3 and GPC4 gene microduplications F Mujezinović, Corresponding Author F Mujezinović Department of Perinatology, Division of Gynaecology and Perinatology, University Medical Centre Maribor, Maribor, SloveniaThese authors contributed equally to this work. Correspondence: Faris Mujezinović, MD, PhD, Assistant professor Department of Perinatology Division of Gynaecology and Perinatology University Medical Centre Maribor Ljubljanska ulica 5 2000 Maribor Slovenia Tel.: +386 2 321 2457; Fax: +386 2 321 27 55 e-mail: [email protected]Search for more papers by this authorD Krgović, D Krgović Laboratory of Medical Genetics, University Medical Centre Maribor, Maribor, SloveniaThese authors contributed equally to this work.Search for more papers by this authorA Blatnik, A Blatnik Laboratory of Medical Genetics, University Medical Centre Maribor, Maribor, SloveniaThese authors contributed equally to this work.Search for more papers by this authorB Zagradišnik, B Zagradišnik Laboratory of Medical Genetics, University Medical Centre Maribor, Maribor, SloveniaSearch for more papers by this authorTV Vipotnik, TV Vipotnik Department of Radiology, University Medical Centre Ljubljana, Ljubljana, SloveniaSearch for more papers by this authorTČ Golec, TČ Golec Institute of Pathology, Faculty of Medicine, University of Ljubljana, Ljubljana, SloveniaSearch for more papers by this authorN Tul, N Tul Department of Perinatology, Division of Obstetrics and Gynaecology, University Medical Centre Ljubljana, Ljubljana, SloveniaSearch for more papers by this authorN Kokalj Vokač, N Kokalj Vokač Laboratory of Medical Genetics, University Medical Centre Maribor, Maribor, Slovenia Faculty of Medicine, University of Maribor, Maribor, SloveniaSearch for more papers by this author F Mujezinović, Corresponding Author F Mujezinović Department of Perinatology, Division of Gynaecology and Perinatology, University Medical Centre Maribor, Maribor, SloveniaThese authors contributed equally to this work. Correspondence: Faris Mujezinović, MD, PhD, Assistant professor Department of Perinatology Division of Gynaecology and Perinatology University Medical Centre Maribor Ljubljanska ulica 5 2000 Maribor Slovenia Tel.: +386 2 321 2457; Fax: +386 2 321 27 55 e-mail: [email protected]Search for more papers by this authorD Krgović, D Krgović Laboratory of Medical Genetics, University Medical Centre Maribor, Maribor, SloveniaThese authors contributed equally to this work.Search for more papers by this authorA Blatnik, A Blatnik Laboratory of Medical Genetics, University Medical Centre Maribor, Maribor, SloveniaThese authors contributed equally to this work.Search for more papers by this authorB Zagradišnik, B Zagradišnik Laboratory of Medical Genetics, University Medical Centre Maribor, Maribor, SloveniaSearch for more papers by this authorTV Vipotnik, TV Vipotnik Department of Radiology, University Medical Centre Ljubljana, Ljubljana, SloveniaSearch for more papers by this authorTČ Golec, TČ Golec Institute of Pathology, Faculty of Medicine, University of Ljubljana, Ljubljana, SloveniaSearch for more papers by this authorN Tul, N Tul Department of Perinatology, Division of Obstetrics and Gynaecology, University Medical Centre Ljubljana, Ljubljana, SloveniaSearch for more papers by this authorN Kokalj Vokač, N Kokalj Vokač Laboratory of Medical Genetics, University Medical Centre Maribor, Maribor, Slovenia Faculty of Medicine, University of Maribor, Maribor, SloveniaSearch for more papers by this author First published: 05 February 2016 https://doi.org/10.1111/cge.12725Citations: 13 Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1Tenorio J, Arias P, Martínez-Glez V et al. Simpson-Golabi-Behmel syndrome types I and II. Orphanet J Rare Dis 2014: 9: 138. 2Waterson J, Stockley TL, Segal S, Golabi M. Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome. Am J Med Genet A 2010: 152A: 3179–3181. 3Sepulveda-Diaz JE, Alavi Naini SM, Huynh MB et al. HS3ST2 expression is critical for the abnormal phosphorylation of tau in Alzheimer's disease-related tau pathology. Brain 2015: 138: 1339–1354. 4Capurro MI, Xu P, Shi W, Li F, Jia A, Filmus J. Glypican-3 inhibits Hedgehog signaling during development by competing with patched for Hedgehog binding. Dev Cell 2008: 14: 700–711. 5Veugelers M, Vermeesch J, Watanabe K, Yamaguchi Y, Marynen P, David G. GPC4, the gene for human K-glypican, flanks GPC3 on xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome. Genomics 1998: 53: 1–11. 6Young EL, Wishnow R, Nigro MA. Expanding the clinical picture of Simpson-Golabi-Behmel syndrome. Pediatr Neurol 2006: 34: 139–142. 7Cottereau E, Mortemousque I, Moizard M-P et al. Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature. Am J Med Genet C Semin Med Genet 2013: 163C: 92–105. Citing Literature Volume90, Issue1July 2016Pages 99-101 ReferencesRelatedInformation