Research Topics
Genomes and Genes | Guy FroyenSummaryAffiliation: Katholieke Universiteit Leuven Country: Belgium Publications
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Publications
Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic regionGuy 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...
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardationGuy 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...
Novel PORCN mutations in focal dermal hypoplasiaG 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...- 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 genesGuy Froyen
Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, Leuven, Belgium
Hum Mutat 28:1034-42. 2007.... - X-linked mental retardation and epigeneticsGuy 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... - CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behaviorSuzanna 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... - Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombinationJoke 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... - Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repairMarijke 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... - Partial duplications of the ATRX gene cause the ATR-X syndromeBernard 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... - Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosisHilde 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... - Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genesHilde 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... - 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 geneSuzanna 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... - Copy-number gains of HUWE1 due to replication- and recombination-based rearrangementsGuy 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... - X chromosome array-CGH for the identification of novel X-linked mental retardation genesMarijke Bauters
Human Genome Laboratory, Department of Human Genetics, Flanders Interuniversity Institute for Biotechnology (VIB, Leuven, Belgium
Eur J Med Genet 48:263-75. 2005.... - Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in malesHilde 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... - Duplication of the MYB oncogene in T cell acute lymphoblastic leukemiaIdoya 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... - Clinical study and haplotype analysis in two brothers with Partington syndromeSuzanna 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... - Telomere length homeostasis and telomere position effect on a linear human artificial chromosome are dictated by the genetic backgroundAn 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... - Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosisJoris 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... - An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndromeFernanda 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... - MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expressionSuzanna Gerarda Maria Frints
Department of Clinical Genetics, University Hospital azM Maastricht, Maastricht, The Netherlands
Eur J Hum Genet 16:1029-37. 2008.... - Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortiumArjan 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... - Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPHLudmila Kousoulidou
Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, 1683 Nicosia, Cyprus
Eur J Med Genet 50:399-410. 2007.... - PAK3 related mental disability: further characterization of the phenotypeMaarit Peippo
Department of Medical Genetics, Family Federation of Finland, Helsinki, Finland
Am J Med Genet A 143:2406-16. 2007.... - X-linked congenital ataxia: a new locus maps to Xq25-q27.1Ginevra 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... - Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humansYe 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... - Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndromeSuzanna G M Frints
Am J Med Genet 112:427-8. 2002