Hilde Van Esch

Summary

Affiliation: Katholieke Universiteit Leuven
Country: Belgium

Publications

  1. ncbi request reprint The Fragile X premutation: new insights and clinical consequences
    Hilde Van Esch
    Centre for Human Genetics, University Hospital Gasthuisberg, Herestraat 49, 3000 Leuven, Belgium
    Eur J Med Genet 49:1-8. 2006
  2. 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
  3. doi request reprint Very early premature ovarian failure in two sisters compound heterozygous for the FMR1 premutation
    Hilde Van Esch
    Center for Human Genetics, University Hospital Leuven, Leuven, Belgium
    Eur J Med Genet 52:37-40. 2009
  4. doi request reprint Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14
    Hilde Van Esch
    Centre for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium
    J Med Genet 47:717-20. 2010
  5. 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
  6. doi request reprint Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome
    Liesbeth Backx
    Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium
    Am J Med Genet A 152:319-26. 2010
  7. doi request reprint BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome
    Jeroen Breckpot
    Center for Human Genetics, University Hospitals Leuven, Herestraat 49, bus 602, B 3000 Leuven, Belgium
    Eur J Med Genet 55:12-6. 2012
  8. 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
  9. doi request reprint 2q31.1 microdeletion syndrome: redefining the associated clinical phenotype
    Boyan Dimitrov
    Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium
    J Med Genet 48:98-104. 2011
  10. 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

Detail Information

Publications47

  1. ncbi request reprint The Fragile X premutation: new insights and clinical consequences
    Hilde Van Esch
    Centre for Human Genetics, University Hospital Gasthuisberg, Herestraat 49, 3000 Leuven, Belgium
    Eur J Med Genet 49:1-8. 2006
    ..This view was, however, gradually challenged with the description and reports of different premutation-associated clinical phenotypes over the last decade...
  2. 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...
  3. doi request reprint Very early premature ovarian failure in two sisters compound heterozygous for the FMR1 premutation
    Hilde Van Esch
    Center for Human Genetics, University Hospital Leuven, Leuven, Belgium
    Eur J Med Genet 52:37-40. 2009
    ..Premature ovarian failure associated with FMR1 premutation at such an early age has not been reported in the literature before...
  4. doi request reprint Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14
    Hilde Van Esch
    Centre for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium
    J Med Genet 47:717-20. 2010
    ..7 Mb. All presented with developmental delay, mild dysmorphism and signs of lax connective tissue. Interestingly, the common deleted region harbours 16 genes, of which COL12A1 is a good candidate for the connective tissue pathology...
  5. 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
    ....
  6. doi request reprint Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome
    Liesbeth Backx
    Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium
    Am J Med Genet A 152:319-26. 2010
    ..Breakpoint analysis using array painting revealed that the Quaking (QKI) gene that maps in 6q26 is disrupted, suggesting that haploinsufficiency of this gene plays a role in the 6q- clinical phenotype...
  7. doi request reprint BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome
    Jeroen Breckpot
    Center for Human Genetics, University Hospitals Leuven, Herestraat 49, bus 602, B 3000 Leuven, Belgium
    Eur J Med Genet 55:12-6. 2012
    ....
  8. 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...
  9. doi request reprint 2q31.1 microdeletion syndrome: redefining the associated clinical phenotype
    Boyan Dimitrov
    Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium
    J Med Genet 48:98-104. 2011
    ..DLX1 and DLX2 haploinsufficiency was suggested as the most plausible explanation for the observed SHFM-like limb anomalies in these cases...
  10. 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...
  11. ncbi request reprint Bronchiectasis and immune deficiency in an adult patient with deletion 2q37 due to an unbalanced translocation t(2;10)
    Irina Balikova
    Center for Human Genetics, University Hospitals Leuven, Herestraat 49, B 3000 Leuven, Belgium
    Eur J Med Genet 52:260-1. 2009
    ..We describe a female patient with der(2) t(2;10)(q37;q26). She presented with congenital malformations typical of a terminal 2q deletion, associated with immune deficiency leading to bronchiectasis...
  12. 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. ..
  13. doi request reprint Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome
    Bernard Thienpont
    Center for Human Genetics, K U Leuven, Herestraat 49 Box 602, Leuven 3000, Belgium
    J Med Genet 47:155-61. 2010
    ..A detailed phenotypic delineation of interstitial 16p13.3 duplications is hampered by the scarcity of such patients...
  14. 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
    ....
  15. doi request reprint PPP2R2C, a gene disrupted in autosomal dominant intellectual disability
    Liesbeth Backx
    Centre for Human Genetics, University Hospital Leuven, Leuven, Belgium
    Eur J Med Genet 53:239-43. 2010
    ..The PPP2R2C gene, encoding a subunit of protein phosphatase 2A, has a unique expression pattern in mouse brain that suggests a role in synaptic plasticity and hence learning and memory...
  16. ncbi request reprint Duplications of 17q12 can cause familial fever-related epilepsy syndromes
    Katia Hardies
    From the Neurogenetics Group K H, S W, P H, P D J, A s, Department of Molecular Genetics, VIB, Antwerp Laboratory of Neurogenetics K H, S W, P H, P D J, A s, Institute Born Bunge, University of Antwerp Department of Neurology E P, W V P, University Hospital Gasthuisberg, Leuven Center for Human Genetics H V E, University Hospitals Leuven, KU Leuven and Division of Neurology P D J, Antwerp University Hospital, Antwerp, Belgium
    Neurology 81:1434-40. 2013
    ..We furthermore describe seizure prevalence in previously reported patients with a 17q12 duplication or deletion...
  17. 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...
  18. 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...
  19. 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. ..
  20. doi request reprint HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability
    Mala Isrie
    Center for Human Genetics, University Hospitals Leuven, KU Leuven, Herestraat 49, 3000 Leuven, Belgium
    Eur J Med Genet 56:379-82. 2013
    ..The third brother has a milder form of ID and does not carry the mutation...
  21. ncbi request reprint Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia
    Hilde Van Esch
    Centre for Human Genetics, University Hospital Leuven, Leuven, Belgium
    Eur J Hum Genet 13:121-3. 2005
    ..In light of these figures, we recommend that FMR-1 analysis should be included in the molecular diagnostic work-up in the group of male ataxia patients older than 50 years...
  22. pmc Network analysis of differential expression for the identification of disease-causing genes
    Daniela Nitsch
    Department of Electrical Engineering ESAT SCD Katholieke Universiteit Leuven, Leuven, Belgium
    PLoS ONE 4:e5526. 2009
    ..Through a randomization procedure, we rank candidates by p-values. We illustrate our approach on four monogenic diseases and successfully prioritize the known disease causing genes...
  23. doi request reprint Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: "circumferential skin creases Kunze type"
    Leen Wouters
    Department of Paediatrics, University Hospitals Leuven, Herestraat 49, B 3000 Leuven, Belgium
    Eur J Med Genet 54:236-40. 2011
    ..This well recognizable syndrome should be distinguished from the "Michelin Tire Baby" syndrome and we therefore propose the term "circumferential skin creases Kunze type"...
  24. pmc Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4
    Liesbeth Backx
    Center for Human Genetics, University Hospital Gasthuisberg, Herestraat 49, Leuven, Belgium
    Eur J Hum Genet 17:378-82. 2009
    ..3), disrupting the ErbB4 gene. This patient represents the first case of haploinsufficiency for one of the ErbB family members of tyrosine kinase receptors...
  25. 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...
  26. doi request reprint Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome
    Hilde Van Esch
    Centre for Human Genetics, University Hospitals Leuven, Herestraat 49, B 3000 Leuven, Belgium
    Eur J Med Genet 52:153-6. 2009
    ..Chromosome 15q24 has a highly polymorphic architecture that is prone to genomic rearrangements underlying this novel microdeletion syndrome...
  27. ncbi request reprint Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations
    Mala Isrie
    Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium
    Am J Med Genet A 164:1576-9. 2014
    ..We also highlight the variability of clinical features among mutation carriers, ranging from severe reduction defects to mild as well as clinically unaffected cases suggesting reduced penetrance...
  28. ncbi request reprint X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family
    Hilde Van Esch
    Centre for Human Genetics, University Hospital Leuven, Herestraat 49, 3000 Leuven, Belgium
    Eur J Med Genet 48:145-52. 2005
    ..00. No mutations were found in the presented family for two known MRX genes mapping to this interval, ARX and IL1RAPL-1. These data indicate that the interval Xp22.1-p21.3 contains at least one additional MRXS gene...
  29. doi request reprint Prenatal diagnosis of MPPH syndrome
    Bart De Keersmaecker
    Department of Obstetrics and Gynecology, University Hospitals, Leuven, Belgium
    Prenat Diagn 33:292-5. 2013
    ..The etiology of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephaly has not been revealed yet. A dominant as well as recessive inheritance has been suggested...
  30. pmc Direct fluorescent labelling of clones by DOP PCR
    Liesbeth Backx
    Center for Human Genetics, University Hospital Leuven, Herestraat 49, B 3000 Leuven, Belgium
    Mol Cytogenet 1:3. 2008
    ..Unfortunately, labelling of DOP amplified BAC clones by traditional labelling methods resulted in high levels of background...
  31. ncbi request reprint A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors
    Paul Daniel Brady
    Centre for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium
    Genet Med 16:469-76. 2014
    ..Although this approach might be considered opposite to the ideal of full reproductive autonomy of the parents, we argue why providing all information to parents may result in a false sense of autonomy.Genet Med 16 6, 469-476. ..
  32. doi request reprint Two novel deletions in hypotonia-cystinuria syndrome
    Luc Régal
    Laboratory for Biochemical Neuroendocrinology, Center for Human Genetics, University of Leuven, KU Leuven, Belgium
    Mol Genet Metab 107:614-6. 2012
    ..Patients are often initially misdiagnosed, while correct diagnosis enables therapeutic interventions. We report two novel deletions, further characterizing the clinical and molecular genetics spectrum of HCS...
  33. ncbi request reprint A boy with an unusual association of ventral midline anomalies including a trunk-like umbilicus
    Hilde Van Esch
    Centre for Human Genetics, Division of Clinical Genetics, University Hospital Leuven, Herestraat 49, B 3000 Leuven, Belgium
    Clin Dysmorphol 13:261-3. 2004
    ..Different diagnoses were considered in this patient, including the pentalogy of Cantrell and Donnai-Barrow syndrome. However, none can account for all the abnormalities seen...
  34. pmc Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
    Lars Riff Jensen
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Am J Hum Genet 76:227-36. 2005
    ..Our results suggest that JARID1C mutations are a relatively common cause of XLMR and that this gene might play an important role in human brain function...
  35. 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...
  36. ncbi request reprint Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)
    Karine Poirier
    Institut Cochin, Universite Paris Descartes, Centre National de la Recherche Scientifique Unite Mixte de Recherche 8104, Paris, France
    Hum Mutat 28:1055-64. 2007
    ..All together, these results, in combination with previously reported data, strengthen the relevance of the known interaction between MTs and DCX, and highlight the importance of the MTs/DCX complex in the neuronal migration process...
  37. 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
    ....
  38. 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
    ....
  39. pmc Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1
    Arvid Suls
    Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium
    Brain 131:1831-44. 2008
    ....
  40. pmc Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome
    Tjitske Kleefstra
    Department of Human Genetics 849, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 79:370-7. 2006
    ..These results establish that haploinsufficiency of EHMT1 is causative for 9q subtelomeric deletion syndrome...
  41. doi request reprint First trimester prenatal diagnosis of 13q-syndrome presenting with increased nuchal translucency, Dandy-Walker malformation and small parietal encephalocoele
    An Hindryckx
    Prenat Diagn 28:445-6. 2008
  42. pmc Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation
    Jiong Tao
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Am J Hum Genet 75:1149-54. 2004
    ..In view of the overlapping phenotypic spectrum of CDKL5 and MECP2 mutations, it is tempting to speculate that these two genes play a role in a common pathogenic process...
  43. ncbi request reprint Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency
    Anil K Agarwal
    From the Division of Nutrition and Metabolic Diseases, University of Texas Southwestern Medical Center, Dallas, TX 75390 9052, USA
    J Investig Med 54:208-13. 2006
    ....
  44. ncbi request reprint Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor
    Asif Ali
    Academic Endocrine Unit, Nuffield Department of Clinical Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Headington, Oxford OX3 7LJ, UK
    Hum Mol Genet 16:265-75. 2007
    ....
  45. 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...
  46. ncbi request reprint Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons
    Karine Poirier
    Laboratoire de Génétique et de Physiopathologie des Retards Mentaux, Institut Cochin INSERM U567, Université Paris V 24, rue du Faubourg Saint Jacques, 75014 Paris, France
    Brain Res Mol Brain Res 122:35-46. 2004
    ..Moreover, no abnormal cell death or protein aggregation was observed, hence suggesting that more subtle pathogenic mechanisms are involved...
  47. ncbi request reprint A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features
    Hilde Van Esch
    Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390 9052, USA
    J Clin Endocrinol Metab 91:517-21. 2006
    ..Mutations in the lamin A/C (LMNA) gene have been reported in a wide variety of disorders, including lipodystrophies, cardiomyopathy, muscular dystrophies, neuropathy, mandibuloacral dysplasia, restrictive dermopathy, and progeria...