Paul J Coucke

Summary

Affiliation: Ghent University
Country: Belgium

Publications

  1. ncbi request reprint Longitudinal and cross-sectional phenotype analysis in a new, large Dutch DFNA2/KCNQ4 family
    Els M R De Leenheer
    Department of Otorhinolaryngology, University Medical Center St Radboud Nijmegen, The Netherlands
    Ann Otol Rhinol Laryngol 111:267-74. 2002
  2. ncbi request reprint Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome
    Paul J Coucke
    Center for Medical Genetics, Ghent University, B 9000 Ghent, Belgium
    Nat Genet 38:452-7. 2006
  3. pmc Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans
    Sofie Symoens
    Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium
    Orphanet J Rare Dis 8:154. 2013
  4. pmc Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity
    Smail Hadj-Rabia
    Service de Dermatologie Centre de référence national des Maladies Génétiques à Expression Cutanée MAGEC, INSERM U781, Hopital Necker Enfants Malades, université Paris V Descartes, 149, rue de Sèvres 75743 PARIS cedex 15, Paris, France
    Orphanet J Rare Dis 8:36. 2013
  5. pmc Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis
    Mahesh Kappanayil
    Departments of Pediatric Cardiology, Amrita Institute of Medical Sciences and Research Centre, Kochi, India
    Orphanet J Rare Dis 7:61. 2012
  6. pmc Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform
    Sarah De Keulenaer
    NXTGNT, Ghent University, Ghent, Belgium
    BMC Med Genomics 5:17. 2012
  7. pmc Analysing 454 amplicon resequencing experiments using the modular and database oriented Variant Identification Pipeline
    Joachim M De Schrijver
    Laboratory for Bioinformatics and Computational Genomics, Department of Molecular Biotechnology, Ghent University, 9000 Ghent, Belgium
    BMC Bioinformatics 11:269. 2010
  8. doi request reprint Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: evidence for a spectrum of ectopic calcification disorders?
    Olivier M Vanakker
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Am J Med Genet A 155:2855-9. 2011
  9. pmc Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype
    Freya K R Swinnen
    Department of Otorhinolaryngology, Ghent University Hospital, De Pintelaan 185, B 9000 Ghent, Belgium
    Orphanet J Rare Dis 6:88. 2011
  10. doi request reprint Association between bone mineral density and hearing loss in osteogenesis imperfecta
    Freya K R Swinnen
    Department of Otorhinolaryngology, Unit for Osteoporosis, Ghent University Hospital, Ghent, Belgium
    Laryngoscope 122:401-8. 2012

Detail Information

Publications37

  1. ncbi request reprint Longitudinal and cross-sectional phenotype analysis in a new, large Dutch DFNA2/KCNQ4 family
    Els M R De Leenheer
    Department of Otorhinolaryngology, University Medical Center St Radboud Nijmegen, The Netherlands
    Ann Otol Rhinol Laryngol 111:267-74. 2002
    ..Persons with this KCNQ4 mutation showed congenital, progressive high-frequency impairment without substantial loss of speech recognition during the first decades of life...
  2. ncbi request reprint Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome
    Paul J Coucke
    Center for Medical Genetics, Ghent University, B 9000 Ghent, Belgium
    Nat Genet 38:452-7. 2006
    ..Our data could provide new insight on the mechanisms causing microangiopathic changes associated with diabetes and suggest that therapeutic compounds intervening with TGFbeta signaling represent a new treatment strategy...
  3. pmc Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans
    Sofie Symoens
    Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium
    Orphanet J Rare Dis 8:154. 2013
    ..This is the first report linking CREB3L1 to human recessive OI, thereby expanding the OI gene spectrum. ..
  4. pmc Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity
    Smail Hadj-Rabia
    Service de Dermatologie Centre de référence national des Maladies Génétiques à Expression Cutanée MAGEC, INSERM U781, Hopital Necker Enfants Malades, université Paris V Descartes, 149, rue de Sèvres 75743 PARIS cedex 15, Paris, France
    Orphanet J Rare Dis 8:36. 2013
    ..In most patients, frameshift mutations are found in the 3' region of the elastin gene (exons 30-34) which result in a C-terminally extended protein, though exceptions have been reported...
  5. pmc Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis
    Mahesh Kappanayil
    Departments of Pediatric Cardiology, Amrita Institute of Medical Sciences and Research Centre, Kochi, India
    Orphanet J Rare Dis 7:61. 2012
    ..We describe a syndrome of lethal arteriopathy associated with a novel, identical mutation in the fibulin 4 gene (FBLN4) in a unique cohort of infants from South India...
  6. pmc Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform
    Sarah De Keulenaer
    NXTGNT, Ghent University, Ghent, Belgium
    BMC Med Genomics 5:17. 2012
    ..In this study we used a semi-automated PCR amplification and NGS in order to combine high sensitivity, speed and cost efficiency...
  7. pmc Analysing 454 amplicon resequencing experiments using the modular and database oriented Variant Identification Pipeline
    Joachim M De Schrijver
    Laboratory for Bioinformatics and Computational Genomics, Department of Molecular Biotechnology, Ghent University, 9000 Ghent, Belgium
    BMC Bioinformatics 11:269. 2010
    ..Currently, no open-source out-of-the-box software solution exists that reliably reports detected genetic variations and that can be used to improve future sequencing effectiveness by analyzing the PCR reactions...
  8. doi request reprint Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: evidence for a spectrum of ectopic calcification disorders?
    Olivier M Vanakker
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Am J Med Genet A 155:2855-9. 2011
    ..The molecular findings in this patient are however insufficient to explain the entire phenotype and suggest a role for multiple genetic factors in soft tissue mineralization...
  9. pmc Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype
    Freya K R Swinnen
    Department of Otorhinolaryngology, Ghent University Hospital, De Pintelaan 185, B 9000 Ghent, Belgium
    Orphanet J Rare Dis 6:88. 2011
    ..A minority of patients develop pure sensorineural hearing loss. The interindividual variability in the audiological characteristics of the hearing loss is unexplained...
  10. doi request reprint Association between bone mineral density and hearing loss in osteogenesis imperfecta
    Freya K R Swinnen
    Department of Otorhinolaryngology, Unit for Osteoporosis, Ghent University Hospital, Ghent, Belgium
    Laryngoscope 122:401-8. 2012
    ..In the present study, we investigated whether the development of hearing loss in OI may be related to the overall aberrant bone quality...
  11. doi request reprint Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum
    Alexander Janssen
    Department of Neurosurgery, Ghent University Hospital, Ghent, Belgium
    Am J Med Genet A 161:2352-7. 2013
    ..Molecular analysis of MSX2 should therefore be considered in patients with isolated scaphocephaly/unicoronal synostosis, especially in the presence of a family history for craniosynostosis or syndactyly...
  12. ncbi request reprint Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome
    Olivier M Vanakker
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Lab Invest 90:895-905. 2010
    ..Although in PXE-like patients this is due to mutations in the GGCX gene, a deficiency of the carboxylation co-factor VK is at the basis of the decreased activity of calcification inhibitors in PXE...
  13. ncbi request reprint Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa
    Bert Callewaert
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Hum Mutat 34:111-21. 2013
    ..We conclude that LTBP4 mutations cause disease through both loss of function and gain of function mechanisms...
  14. pmc Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients
    Kristien P Hoornaert
    Center for Medical Genetics, Ghent University Hospital, Gent, Belgium corrected
    Eur J Hum Genet 18:872-80. 2010
    ..On the basis of binary regression analysis, we developed a scoring system that may be useful when evaluating patients with Stickler syndrome...
  15. doi request reprint Stapes surgery in osteogenesis imperfecta: retrospective analysis of 34 operated ears
    Freya K R Swinnen
    Department of Otorhinolaryngology, Ghent University Hospital, Belgium Freya Swinnen UGent be
    Audiol Neurootol 17:198-206. 2012
    ..Despite the progressive course of the concomitant sensorineural component, hearing gain remains beneficial over several decades...
  16. pmc Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum
    Mohammad J Hosen
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Orphanet J Rare Dis 9:66. 2014
    ..In this study, we have investigated the relevance of the signalling pathways described in vascular soft tissue mineralization in the PXE knock-out mouse model and in PXE patients...
  17. doi request reprint Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes
    Machteld Baetens
    Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium
    Hum Mutat 32:1053-62. 2011
    ..We conclude that multiplex PCR of all coding exons of FBN1 and TGFBR1/2 followed by NGS analysis and MLPA is a robust strategy for time- and cost-effective identification of mutations...
  18. doi request reprint Added value of infrared, red-free and autofluorescence fundus imaging in pseudoxanthoma elasticum
    Julie De Zaeytijd
    Department of Ophthalmology and Centre for Medical Genetics, Ghent University Hospital, De Pintelaan 185, Ghent 9000, Belgium
    Br J Ophthalmol 94:479-86. 2010
    ..The present study aims to evaluate the added value of novel funduscopic imaging techniques, such as near-infrared reflectance, red-free and autofluorescence imaging in PXE...
  19. ncbi request reprint Missense mutations in LRP5 are not a common cause of idiopathic osteoporosis in adult men
    Patricia Crabbe
    Department of Endocrinology, Ghent University Hospital, Ghent, Belgium
    J Bone Miner Res 20:1951-9. 2005
    ..We studied whether the LRP5 gene contributes to the clinical phenotype of IO in men. Mutation analysis in 66 IO men revealed a range of sequence variants, of which two missense variants were shown to be of functional relevance...
  20. pmc Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa
    Frauke Coppieters
    Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B 9000 Ghent, Belgium
    Am J Hum Genet 81:147-57. 2007
    ....
  21. pmc New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations
    Bert Callewaert
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Hum Mutat 32:445-55. 2011
    ..We conclude that ADCL is a systemic disease with cardiovascular and pulmonary complications, associated with increased TGF-β signaling and mutation-specific differences in endoplasmic reticulum stress and apoptosis...
  22. doi request reprint Functional polymorphism in gamma-glutamylcarboxylase is a risk factor for severe neonatal hemorrhage
    Olivier M Vanakker
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    J Pediatr 159:347-9. 2011
    ..Molecular analysis of the gamma-glutamylcarboxylase gene revealed a heterozygous single nucleotide polymorphism, which decreases carboxylase activity and induces VK-dependent coagulation deficiency...
  23. ncbi request reprint Aneurysm syndromes caused by mutations in the TGF-beta receptor
    Bart L Loeys
    McKusick Nathans Institute for Genetic Medicine, Johns Hopkins University School of Medicine, and the Kennedy Krieger Institute, Baltimore, USA
    N Engl J Med 355:788-98. 2006
    ....
  24. ncbi request reprint Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis
    Jan Hellemans
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Nat Genet 36:1213-8. 2004
    ..XMAN1, the Xenopus laevis ortholog, antagonizes BMP signaling during embryogenesis. In this study, LEMD3 interacted with BMP and activin-TGFbeta receptor-activated Smads and antagonized both signaling pathways in human cells...
  25. doi request reprint Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region
    Laura M F Costrop
    Center for Medical Genetics, Ghent University, Belgium
    J Hum Genet 55:112-7. 2010
    ..Our results further illustrate the instability of the ABCC6 genomic region and stress the importance of screening for deletions in the molecular diagnosis of PXE...
  26. doi request reprint Audiologic phenotype of osteogenesis imperfecta: use in clinical differentiation
    Freya K R Swinnen
    Department of Otorhinolaryngology, Ghent University Hospital, Ghent, Belgium
    Otol Neurotol 33:115-22. 2012
    ..To describe the audiologic phenotype in osteogenesis imperfecta (OI)...
  27. pmc Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips
    Jan Hellemans
    Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Am J Hum Genet 72:1040-6. 2003
    ..The two mutant amino acids are strongly conserved and predicted to be located outside the region where brachydactyly type A-1 mutations are clustered...
  28. pmc Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency
    Marjolijn Renard
    Center for Medical Genetics, University Hospital Ghent, De Pintelaan 185, Ghent, Belgium
    Eur J Hum Genet 18:895-901. 2010
    ..This confirms the important role of fibulin-4 in vascular elastic fiber assembly. Furthermore, we provide the first evidence for the involvement of altered TGFbeta signaling in the pathogenesis of FBLN4 mutations in humans...
  29. ncbi request reprint Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome
    Françoise M J Roulez
    Department of Pediatric Ophthalmology FMJR, FMM, HUDERF, ULB, Brussels, Belgium Departments of Neuropediatrics FF and Ophthalmology PD, JDZ, Ghent University, Belgium Department of Neuropediatrics PVB, Erasme, ULB, Brussels, Belgium Department of Neuroradiology GR, Foch Hospital, Paris, France Department of Ophthalmology FD, Erasme, ULB, Brussels, Belgium Department of Medical Genetics PJC, Ghent University, Ghent, Belgium and Vista Alpina FMJR, Sierre, Switzerland
    J Neuroophthalmol 34:137-43. 2014
    ..We add to the ophthalmologic involvement with 3 more patients. Congenital fixed dilated pupils is a rare condition and should alert ophthalmologists to the possibility of the coexistence of systemic life-threatening disorders...
  30. ncbi request reprint Czech dysplasia metatarsal type: another type II collagen disorder
    Kristien P Hoornaert
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Eur J Hum Genet 15:1269-75. 2007
    ..The R275C mutation in the COL2A1 gene causes a specific type II collagen disorder that was recently delineated as Czech dysplasia...
  31. ncbi request reprint Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature
    Bert L Callewaert
    Center for Medical Genetics, Ghent University Hospital, Belgium
    Hum Mutat 30:334-41. 2009
    ..Finally, the FBN2-negative patients in this cohort were clinically indistinguishable from all published FBN2-positive patients harboring a FBN2 mutation, suggesting locus heterogeneity...
  32. ncbi request reprint Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity
    Olivier M Vanakker
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    J Invest Dermatol 127:581-7. 2007
    ..These findings all support the hypothesis that the disorder indeed represents a separate clinical and genetic entity, the molecular background of which remains to be unraveled...
  33. ncbi request reprint A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment
    Guy Van Camp
    Department of Medical Genetics, University of Antwerp UIA, Antwerp, Belgium
    Hum Mutat 20:15-9. 2002
    ..Therefore, the W276S mutation has occurred three times independently, and most likely represents a hot spot for mutation in the KCNQ4 gene...
  34. ncbi request reprint Three new families with arterial tortuosity syndrome
    Marja W Wessels
    Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands
    Am J Med Genet A 131:134-43. 2004
    ..A biochemical or molecular defect has not yet been identified. We describe here nine additional ATS patients from three consanguineous Moroccan families and review a total of 35 patients with this uncommon condition...
  35. pmc Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum
    Ellen G Pfendner
    GeneDx Inc, 207 Perry Parkway, Gaithersburg, Maryland 20877, USA
    J Med Genet 44:621-8. 2007
    ..It is caused by mutations in the ABCC6 (ATP binding cassette family C member 6) gene, which encodes MRP6 (multidrug resistance-associated protein 6)...
  36. ncbi request reprint Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?
    Isabelle Audo
    Laboratoire de Physiopathologie Cellulaire Moléculaire et de la Rétine, Institut National de la Sante et de la Recherche Medicale, Universite Pierre et Marie Curie, Paris, France
    Invest Ophthalmol Vis Sci 48:4250-6. 2007
    ..The purpose of this study was the objective assessment of macular and generalized retinal function in unrelated patients with clinical and/or genetic features of PXE...
  37. ncbi request reprint Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa
    Qirui Hu
    Department of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA
    Hum Mol Genet 15:3379-86. 2006
    ..These findings support the hypothesis that fibulin-5 is necessary for elastic fiber formation by facilitating the deposition of elastin onto a microfibrillar scaffold via direct molecular interactions...