Guy Froyen

Summary

Affiliation: Katholieke Universiteit Leuven
Country: Belgium

Publications

  1. ncbi request reprint Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region
    Guy Froyen
    Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, Leuven, Belgium
    Hum Genet 121:539-47. 2007
  2. pmc Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
    Guy Froyen
    Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, B 3000 Leuven, Belgium
    Am J Hum Genet 82:432-43. 2008
  3. pmc Large-scale analysis of tandem repeat variability in the human genome
    Jorge Duitama
    VIB Lab for Systems Biology and CMPG Lab for Genetics and Genomics, KU Leuven, B 3001 Leuven, Belgium Agrobiodiversity Research Area, International Center for Tropical Agriculture CIAT, Cali, Colombia
    Nucleic Acids Res 42:5728-41. 2014
  4. pmc Generation and characterization of an Nxf7 knockout mouse to study NXF5 deficiency in a patient with intellectual disability
    Lieselot Vanmarsenille
    Human Genome Laboratory, VIB Center for the Biology of Disease, Leuven, Belgium
    PLoS ONE 8:e64144. 2013
  5. doi request reprint Novel PORCN mutations in focal dermal hypoplasia
    G Froyen
    Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, 3000 Leuven, Belgium
    Clin Genet 76:535-43. 2009
  6. ncbi request reprint Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes
    Guy Froyen
    Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, Leuven, Belgium
    Hum Mutat 28:1034-42. 2007
  7. ncbi request reprint X-linked mental retardation and epigenetics
    Guy Froyen
    Human Genome Laboratory, VIB, Department Molecular and Developmental Genetics, University of Leuven, Leuven, Belgium
    J Cell Mol Med 10:808-25. 2006
  8. ncbi request reprint CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior
    Suzanna G M Frints
    Flanders Interuniversity Institute for Biotechnology VIB, Center for Human Genetics, Leuven, Belgium
    Hum Mol Genet 12:1463-74. 2003
  9. pmc Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination
    Joke Vandewalle
    Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, B 3000 Leuven, Belgium
    Am J Hum Genet 85:809-22. 2009
  10. pmc Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair
    Marijke Bauters
    Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, B 3000 Leuven, Belgium
    Genome Res 18:847-58. 2008

Detail Information

Publications32

  1. ncbi request reprint Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region
    Guy Froyen
    Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, Leuven, Belgium
    Hum Genet 121:539-47. 2007
    ..So far, we have screened a cohort of 300 patients but did not find additional aberrations at the FTSJ1 locus indicating that the frequency is likely to be low...
  2. pmc Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
    Guy Froyen
    Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, B 3000 Leuven, Belgium
    Am J Hum Genet 82:432-43. 2008
    ..Our findings demonstrate that an increased gene dosage of HSD17B10, HUWE1, or both contribute to the etiology of XLMR and suggest that point mutations in HUWE1 are associated with this disease too...
  3. pmc Large-scale analysis of tandem repeat variability in the human genome
    Jorge Duitama
    VIB Lab for Systems Biology and CMPG Lab for Genetics and Genomics, KU Leuven, B 3001 Leuven, Belgium Agrobiodiversity Research Area, International Center for Tropical Agriculture CIAT, Cali, Colombia
    Nucleic Acids Res 42:5728-41. 2014
    ..The method opens new routes to look at this underappreciated type of genetic variability, including the identification of novel disease-related repeats. ..
  4. pmc Generation and characterization of an Nxf7 knockout mouse to study NXF5 deficiency in a patient with intellectual disability
    Lieselot Vanmarsenille
    Human Genome Laboratory, VIB Center for the Biology of Disease, Leuven, Belgium
    PLoS ONE 8:e64144. 2013
    ..In conclusion, our findings provide strong evidence that mouse Nxf7 is the functional counterpart of human NXF5, which might play a critical role in mRNA metabolism in the brain...
  5. doi request reprint Novel PORCN mutations in focal dermal hypoplasia
    G Froyen
    Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, 3000 Leuven, Belgium
    Clin Genet 76:535-43. 2009
    ..The clinical characteristics of our patients with PORCN mutations were compared with the previously reported mutation-positive cases. In this report, we summarize the literature on PORCN mutations and associated phenotypes...
  6. ncbi request reprint Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes
    Guy Froyen
    Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, Leuven, Belgium
    Hum Mutat 28:1034-42. 2007
    ....
  7. ncbi request reprint X-linked mental retardation and epigenetics
    Guy Froyen
    Human Genome Laboratory, VIB, Department Molecular and Developmental Genetics, University of Leuven, Leuven, Belgium
    J Cell Mol Med 10:808-25. 2006
    ..It is therefore tempting to speculate that the cognitive deficit in a significant percentage of patients with unexplained mental retardation results from epigenetic modifications...
  8. ncbi request reprint CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior
    Suzanna G M Frints
    Flanders Interuniversity Institute for Biotechnology VIB, Center for Human Genetics, Leuven, Belgium
    Hum Mol Genet 12:1463-74. 2003
    ..This suggests that the CALL gene at 3p26.3 is a prime candidate for an autosomal form of mental retardation. So far, mutation analysis of the CALL gene in patients with non-specific MR did not reveal any disease-associated mutations...
  9. pmc Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination
    Joke Vandewalle
    Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, B 3000 Leuven, Belgium
    Am J Hum Genet 85:809-22. 2009
    ..Moreover, these data also imply that a copy-number gain of an individual gene present in the larger genomic aberration that leads to the severe MECP2 duplication syndrome can of itself result in a clinical phenotype as well...
  10. pmc Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair
    Marijke Bauters
    Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, B 3000 Leuven, Belgium
    Genome Res 18:847-58. 2008
    ..Our results indicate that the mechanism by which copy number changes occur in regions with a complex genomic architecture can yield complex rearrangements...
  11. ncbi request reprint Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene
    Suzanna G M Frints
    Human Genome Laboratory and Flanders Interuniversity Institute for Biotechnology, University of Leuven, Leuven, Belgium
    Am J Med Genet A 119:367-74. 2003
    ..Therefore, mutation screening of the NXF gene family in phenotypically identical patients is recommended...
  12. ncbi request reprint Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis
    Hilde Van Esch
    Department of Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
    Hum Mol Genet 14:1795-803. 2005
    ..These data confirm the role of VCX-A in the occurrence of MR in XLI patients. Moreover, we propose a VCX/Y teamwork-dependent mechanism for the incidence of mental impairment in XLI patients...
  13. pmc Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements
    Guy Froyen
    Human Genome Laboratory, VIB Center for the Biology of Disease, KU Leuven, 3000 Leuven, Belgium
    Am J Hum Genet 91:252-64. 2012
    ..In summary, we showed that an increased dosage of HUWE1 causes nonsyndromic ID and demonstrated that the Xp11.22 region is prone to recombination- and replication-based rearrangements...
  14. ncbi request reprint Partial duplications of the ATRX gene cause the ATR-X syndrome
    Bernard Thienpont
    Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium
    Eur J Hum Genet 15:1094-7. 2007
    ..These findings underscore the need for including quantitative analyses to mutation analysis of the ATRX gene...
  15. ncbi request reprint Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes
    Hilde Van Esch
    Centre for Human Genetics, University Hospital Gasthuisberg, Herestraat, Leuven, Belgium
    Am J Med Genet A 143:364-9. 2007
    ..Moreover it illustrates the added value of high resolution array-CGH in molecular diagnosis of mental retardation-multiple congenital anomaly cases...
  16. ncbi request reprint X chromosome array-CGH for the identification of novel X-linked mental retardation genes
    Marijke Bauters
    Human Genome Laboratory, Department of Human Genetics, Flanders Interuniversity Institute for Biotechnology VIB, Leuven, Belgium
    Eur J Med Genet 48:263-75. 2005
    ....
  17. doi request reprint The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability
    Joke Vandewalle
    Human Genome Laboratory, VIB Center for the Biology of Disease, Leuven, Belgium
    Hum Genet 132:1177-85. 2013
    ..Our data indicate that SLC25A5 is involved in memory formation or establishment, which could add mitochondrial processes to the wide array of pathways that regulate normal cognitive functions. ..
  18. pmc Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males
    Hilde Van Esch
    Centre for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
    Am J Hum Genet 77:442-53. 2005
    ..Moreover, duplication of the MECP2 region occurs frequently in male patients with a severe form of MR, which justifies quantitative screening of MECP2 in this group of patients...
  19. ncbi request reprint Duplication of the MYB oncogene in T cell acute lymphoblastic leukemia
    Idoya Lahortiga
    Human Genome Laboratory, Department of Molecular and Developmental Genetics, Vlaams Instituut voor Biotechnologie VIB, Leuven, Belgium
    Nat Genet 39:593-5. 2007
    ..Our results identify duplication of MYB as an oncogenic event and suggest that MYB could be a therapeutic target in human T-ALL...
  20. ncbi request reprint Clinical study and haplotype analysis in two brothers with Partington syndrome
    Suzanna G M Frints
    Human Genome Laboratory, Flanders Interuniversity Institute for Biotechnology, Leuven, Belgium
    Am J Med Genet 112:361-8. 2002
    ..Haplotype analysis showed that the affected brothers share the PRTS region at Xp22.1. Mutation screening of the PDH-E1alpha gene did not reveal a pathogenic mutation...
  21. ncbi request reprint Early Frameshift Mutation in PIGA Identified in a Large XLID Family Without Neonatal Lethality
    Stefanie Belet
    Human Genome Laboratory, VIB Center for the Biology of Disease, Leuven, Belgium Human Genome Laboratory, Department of Human Genetics, KU Leuven, Leuven, Belgium
    Hum Mutat 35:350-5. 2014
    ..Taken together, our data strongly suggest that the early frameshift mutation in PIGA produces a truncated hypomorph, which is sufficient to rescue the lethality in males but not the MCAHS2-like phenotype. ..
  22. pmc Telomere length homeostasis and telomere position effect on a linear human artificial chromosome are dictated by the genetic background
    An Weuts
    Human Genome Laboratory, VIB Center for the Biology of Disease, Leuven, Belgium
    Nucleic Acids Res 40:11477-89. 2012
    ..We thus provide a new tool for functional telomere studies and provide strong evidence that telomere length, subtelomeric chromatin marks and expression of subtelomeric genes are genetic background dependent...
  23. pmc Ubiquitin ligase HUWE1 regulates axon branching through the Wnt/β-catenin pathway in a Drosophila model for intellectual disability
    Joke Vandewalle
    Human Genome Laboratory, VIB Center for the Biology of Disease, Leuven, Belgium Human Genome Laboratory, Department of Human Genetics, KU Leuven, Leuven, Belgium
    PLoS ONE 8:e81791. 2013
    ....
  24. ncbi request reprint Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis
    Joris R Vermeesch
    Center for Human Genetics, Herestraat 49, 3000 Leuven, Belgium
    J Histochem Cytochem 53:413-22. 2005
    ..We propose to name the genome-wide array CGH "molecular karyotyping," in analogy with conventional karyotyping that uses staining methods to visualize chromosomes...
  25. ncbi request reprint PAK3 related mental disability: further characterization of the phenotype
    Maarit Peippo
    Department of Medical Genetics, Family Federation of Finland, Helsinki, Finland
    Am J Med Genet A 143:2406-16. 2007
    ....
  26. ncbi request reprint An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome
    Fernanda Sarquis Jehee
    Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, Brazil
    Am J Med Genet A 139:221-6. 2005
    ..We also discuss the involvement of other potential genes within the duplicated segment and its relationship with clinical symptoms of our patient, as well as the laboratory abnormalities found in his mother, a carrier of the duplication...
  27. ncbi request reprint Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium
    Arjan P M de Brouwer
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 28:207-8. 2007
    ..Our results show that it is now possible to identify 42% of the genetic defects in non-syndromic and syndromic XLMR families with obligate female carriers...
  28. ncbi request reprint MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression
    Suzanna Gerarda Maria Frints
    Department of Clinical Genetics, University Hospital azM Maastricht, Maastricht, The Netherlands
    Eur J Hum Genet 16:1029-37. 2008
    ....
  29. ncbi request reprint Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH
    Ludmila Kousoulidou
    Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, 1683 Nicosia, Cyprus
    Eur J Med Genet 50:399-410. 2007
    ....
  30. ncbi request reprint Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome
    Suzanna G M Frints
    Am J Med Genet 112:427-8. 2002
  31. pmc Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans
    Ye Wu
    Institute of Genetic Medicine and Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Proc Natl Acad Sci U S A 104:18163-8. 2007
    ..Our study provides the genetic and functional evidence that mutant iGluR3 with altered kinetic properties is associated with moderate cognitive impairment in humans...
  32. doi request reprint X-linked congenital ataxia: a new locus maps to Xq25-q27.1
    Ginevra Zanni
    Institut Cochin, Universite Paris Descartes, CNRS UMR 8104 Paris, France
    Am J Med Genet A 146:593-600. 2008
    ..2000]; however, the newly identified locus does not overlap with the one defined previously, indicating that there are at least two genes responsible for this rare form of X-linked congenital cerebellar ataxia with normal intelligence...