Anne De Paepe, MD, PhD

Chairman, Centre for Medical Genetics, Ghent University Hospital, Belgium
Professor of Human and Medical Genetics
Faculty of Medicine and Health Sciences, Ghent University, Belgium

Anne De Paepe obtained her M.D. degree in the Faculty of Medicine at the Ghent University, specialized in Internal Medicine and in Medical Genetics at the same university, after one year of training abroad (Dermatology Research Centre, Harrow, London). She obtained her Ph.D. in human and medical genetics at the Ghent University with a thesis on heritable connective tissue disorders. She is chairman of the Centre for Medical Genetics at the Ghent University Hospital since 1993 and full professor of human and medical genetics in the Faculty of Medicine and Health Sciences from the Ghent University.

Areas of Interest

Genetics of PXE, PXE and the Metabolism, Clinical Manifestations, Epidemiology of PXE

Publications

Vanakker OM, Leroy BP, Schurgers LJ, Vermeer C, Coucke PJ, De Paepe A. Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: evidence for a spectrum of ectopic calcification disorders? Am J Med Genet A. 2011 Nov;155A(11):2855-9. PMID: 21964806

Brampton C, Yamaguchi Y, Vanakker O, Van Laer L, Chen Lh, Thakore M, De Paepe A, Pomozi V, Szabó Pt, Martin L, Váradi A, Le Saux O. Vitamin K does not prevent soft tissue mineralization in a mouse model of pseudoxanthoma elasticum. Cell Cycle. 2011 Jun 1;10(11):1810-20. Free article in PubMed. PMID: 21597330

Vanakker OM, Hemelsoet D, De Paepe A. Hereditary connective tissue diseases in young adult stroke: A comprehensive synthesis. Stroke Res Treat. 2011 Jan:712903. Free article in PubMed. PMID: 21331163

De Zaeytijd J, Vanakker OM, Coucke PJ, De Paepe A, De Laey JJ, Leroy BP. Added value of infrared, red-free and autofluorescence fundus imaging in pseudoxanthoma elasticum. Br J Ophthalmol. 2010;94:4 479-86. PMID: 19726431

Vanakker OM, Martin L, Schurgers LJ, Quaglino D, Vermeer C, Pasquali-Ronchetti I, Coucke PJ, De Paepe A. Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to GGCX mutations in the PXE-like syndrome. Lab Invest. 2010 Jun;90:895-905. Free article at journal website. PMID: 20368697

Costrop LM, Vanakker OM, Van Laer L, Le Saux O, Martin L, Chassaing N, Guerra D, Pasquali-Ronchetti I, Coucke PJ, De Paepe A. Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region. J Hum Genet. 2010;55:112-7. PMID: 20075945

Vanakker OM, Leroy BP, Coucke P, Bercovitch LG, Uitto J, Viljoen D, Terry SF, Van Acker P, Matthys D, Loeys B, De Paepe A. Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart. Hum Mutat. 2008 Jan;29(1):205. Free article at Journal Website. PMID: 18157818

Pfendner EG, Vanakker OM, Terry SF, Vourthis S, McAndrew PE, McClain MR, Fratta S, Marais AS, Hariri S, Coucke PJ, Ramsay M, Viljoen D, Terry PF, De Paepe A, Uitto J, Bercovitch LG. Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. J Med Genet. 2007 Oct;44(10):621-8. Free article in PubMed, Patient Summary. PMID: 17617515

Audo I, Vanakker OM, Smith A, Leroy BP, Robson AG, Jenkins SA, Coucke PJ, Bird AC, De Paepe A, Holder GE, Webster AR. Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding? Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4250-6. Free article at Journal Website. PMID: 17724214

Vanakker OM, Martin L, Gheduzzi D, Leroy BP, Loeys BL, Guerci VI, Matthys D, Terry SF, Coucke PJ, Pasquali-Ronchetti I, De Paepe A. Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity. J Invest Dermatol. 2007 Mar;127(3):581-7. Free article at Journal Website. PMID: 17110937

Vanakker OM, Voet D, Petrovic M, van Robaeys F, Leroy BP, Coucke P, De Paepe A. Visceral and testicular calcifications as part of the phenotype in pseudoxanthoma elasticum: ultrasound findings in Belgian patients and healthy carriers. Br J Radiol. 2006 Mar;79(939):221-5. Free article at Journal Website. PMID: 16498034

Le Saux O, Beck K, Sachsinger C, Silvestri C, Treiber C, Göring HH, Johnson EW, De Paepe A, Pope FM, Pasquali-Ronchetti I, Bercovitch L, Marais AS, Viljoen DL, Terry SF, Boyd CD. A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. Am J Hum Genet. 2001 Oct;69(4):749-64. Free article in PubMed. PMID: 11536079

Le Saux O, Urban Z, Tschuch C, Csiszar K, Bacchelli B, Quaglino D, Pasquali-Ronchetti I, Pope FM, Richards A, Terry S, Bercovitch L, De Paepe A, Boyd CD. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Genet. 2000 Jun;25(2):223-7. PMID: 10835642