Guy Van Camp

Summary

Affiliation: University of Antwerp
Country: Belgium

Publications

  1. pmc Occupational noise, smoking, and a high body mass index are risk factors for age-related hearing impairment and moderate alcohol consumption is protective: a European population-based multicenter study
    Erik Fransen
    Department of Medical Genetics, University of Antwerp, Universiteitsplein, 2610 Antwerp, Belgium
    J Assoc Res Otolaryngol 9:264-76; discussion 261-3. 2008
  2. pmc The splicing mutant of the human tumor suppressor protein DFNA5 induces programmed cell death when expressed in the yeast Saccharomyces cerevisiae
    Sofie Van Rossom
    Department of Biology, Functional Biology, KU Leuven Leuven Heverlee, Belgium
    Front Oncol 2:77. 2012
  3. 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
  4. pmc A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene
    Guy Van Camp
    Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B 2610 Antwerp, Belgium
    Am J Hum Genet 79:449-57. 2006
  5. 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
  6. doi request reprint Genetics of microtia and associated syndromes
    F Alasti
    Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Wilrijk, Belgium
    J Med Genet 46:361-9. 2009
  7. doi request reprint Genetic variants in the RELN gene are associated with otosclerosis in multiple European populations
    Isabelle Schrauwen
    Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium
    Hum Genet 127:155-62. 2010
  8. ncbi request reprint The contribution of GJB2 (Connexin 26) 35delG to age-related hearing impairment and noise-induced hearing loss
    Els Van Eyken
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Otol Neurotol 28:970-5. 2007
  9. pmc Genome-wide SNP analysis reveals no gain in power for association studies of common variants in the Finnish Saami
    Jeroen R Huyghe
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Eur J Hum Genet 18:569-74. 2010
  10. doi request reprint No evidence for association between the renin-angiotensin-aldosterone system and otosclerosis in a large Belgian-Dutch population
    Isabelle Schrauwen
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Otol Neurotol 30:1079-83. 2009

Detail Information

Publications97

  1. pmc Occupational noise, smoking, and a high body mass index are risk factors for age-related hearing impairment and moderate alcohol consumption is protective: a European population-based multicenter study
    Erik Fransen
    Department of Medical Genetics, University of Antwerp, Universiteitsplein, 2610 Antwerp, Belgium
    J Assoc Res Otolaryngol 9:264-76; discussion 261-3. 2008
    ..Significant associations were found in the high as well as in the low frequencies. The results suggest that a healthy lifestyle can protect against age-related hearing impairment...
  2. pmc The splicing mutant of the human tumor suppressor protein DFNA5 induces programmed cell death when expressed in the yeast Saccharomyces cerevisiae
    Sofie Van Rossom
    Department of Biology, Functional Biology, KU Leuven Leuven Heverlee, Belgium
    Front Oncol 2:77. 2012
    ..Combined, our data underscore that the yeast system offers a valuable tool to further dissect the apoptotic properties of DFNA5...
  3. 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...
  4. pmc A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene
    Guy Van Camp
    Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B 2610 Antwerp, Belgium
    Am J Hum Genet 79:449-57. 2006
    ..Mutation analysis of this gene is recommended in patients with Stickler syndrome with possible autosomal recessive inheritance...
  5. 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...
  6. doi request reprint Genetics of microtia and associated syndromes
    F Alasti
    Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Wilrijk, Belgium
    J Med Genet 46:361-9. 2009
    ..The focus of this review is to discuss the genetic aspects of microtia and associated syndromes. The clinical aspects of various disorders involving microtia are also discussed in relation to the genes that are causing them...
  7. doi request reprint Genetic variants in the RELN gene are associated with otosclerosis in multiple European populations
    Isabelle Schrauwen
    Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium
    Hum Genet 127:155-62. 2010
    ..These data further implicate RELN in the pathogenesis of otosclerosis. Functional research is warranted to determine the pathways through which RELN acts in the pathogenesis of otosclerosis...
  8. ncbi request reprint The contribution of GJB2 (Connexin 26) 35delG to age-related hearing impairment and noise-induced hearing loss
    Els Van Eyken
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Otol Neurotol 28:970-5. 2007
    ..The common GJB2 (Connexin 26) 35delG mutation might contribute to the development of age-related hearing impairment (ARHI) and noise-induced hearing loss (NIHL)...
  9. pmc Genome-wide SNP analysis reveals no gain in power for association studies of common variants in the Finnish Saami
    Jeroen R Huyghe
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Eur J Hum Genet 18:569-74. 2010
    ..Our results further indicate that the HapMap is a useful resource for genetic studies in the Saami...
  10. doi request reprint No evidence for association between the renin-angiotensin-aldosterone system and otosclerosis in a large Belgian-Dutch population
    Isabelle Schrauwen
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Otol Neurotol 30:1079-83. 2009
    ..In the current study, a replication study was done in a large Belgian-Dutch population to investigate whether this association could be replicated...
  11. ncbi request reprint The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment
    Lut Van Laer
    Department of Medical Genetics, University of Antwerp, B 2610 Antwerp, Belgium
    Hum Mol Genet 17:159-69. 2008
    ..Subsequent fine mapping of this locus demonstrated that the majority of the associated SNPs reside in intron 1. We hypothesize that the causative variant may change the expression levels of a GRHL2 isoform...
  12. ncbi request reprint Phenotype-genotype correlations in otosclerosis: clinical features of OTSC2
    Frank Declau
    Department of Otorhinolaryngology, Head and Neck Surgery and Communication Disorders, University of Antwerp, Antwerp, Belgium
    Adv Otorhinolaryngol 65:114-8. 2007
    ..Identifying a genetic susceptibility would allow us to dissect out possible environmental factors that prevent the expression of clinical otosclerosis in those that carry the mutated gene and yet retain normal hearing...
  13. pmc Variations in HSP70 genes associated with noise-induced hearing loss in two independent populations
    Annelies Konings
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Eur J Hum Genet 17:329-35. 2009
    ..In conclusion, this study replicated the association of HSP70 genes with NIHL in a second and third independent noise-exposed sample set, hereby adding to the evidence that HSP70 genes may be NIHL susceptibility genes...
  14. ncbi request reprint The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations
    Melissa Thys
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Hum Mol Genet 16:2021-30. 2007
    ....
  15. doi request reprint A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss
    Nele Hilgert
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Eur J Hum Genet 16:593-602. 2008
    ..Most likely, the overexpression is caused by a mutation in an unidentified regulatory region of the gene. This study indicates that the inner ear hair cells are sensitive to changes in expression levels of MYO6...
  16. pmc Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene
    Nele Hilgert
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Eur J Hum Genet 17:517-24. 2009
    ..Significantly associated SNPs may reflect a small modifying effect on the phenotype. Increasing the power of the study will be of greatest importance to confirm these results...
  17. pmc Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait
    Jeroen R Huyghe
    Department of Medical Genetics, University of Antwerp, B 2610 Antwerp, Belgium
    Am J Hum Genet 83:401-7. 2008
    ..Linkage analysis identified a linkage peak on 8q24.13-q24.22 for a trait correlated to audiogram shape. The signal reached genome-wide significance, as assessed by simulations. This finding represents the first locus for an ARHI trait...
  18. pmc A genome-wide analysis of population structure in the Finnish Saami with implications for genetic association studies
    Jeroen R Huyghe
    Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, Antwerp, Belgium
    Eur J Hum Genet 19:347-52. 2011
    ....
  19. ncbi request reprint Ozzy, a Jag1 vestibular mouse mutant, displays characteristics of Alagille syndrome
    Karen Vrijens
    Department of Medical Genetics, University of Antwerp, B 2610 Antwerp, Belgium
    Neurobiol Dis 24:28-40. 2006
    ..Thirty-seven percent of Ozzy mice showed heart defects. No eye or vertebral abnormalities could be detected. In conclusion, Ozzy mice show two of the major and one minor characteristic of AGS...
  20. pmc The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein
    Ken Op de Beeck
    Center of Medical Genetics, Department of Biomedical Sciences, University of Antwerp, Universiteitsplein 1, Wilrijk, Belgium
    Eur J Hum Genet 19:965-73. 2011
    ..In addition, it provides a new line of evidence supporting an important role for apoptosis in monogenic and complex forms of HL...
  21. pmc A genome-wide association study for age-related hearing impairment in the Saami
    Lut Van Laer
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Eur J Hum Genet 18:685-93. 2010
    ..As a previous GWAS of a European and Finnish sample set already suggested a role for GRM7 in ARHI, this study provides further evidence for the involvement of this gene...
  22. pmc Association of bone morphogenetic proteins with otosclerosis
    Isabelle Schrauwen
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    J Bone Miner Res 23:507-16. 2008
    ..We found significant association in both populations with BMP2 and BMP4, implicating these two genes in the pathogenesis of this disease...
  23. doi request reprint Audiometric shape and presbycusis
    Kelly Demeester
    Department of Otolaryngology, University and University Hospital of Antwerp, Wilrijkstraat 10, 2650 Edegem, Antwerp, Belgium
    Int J Audiol 48:222-32. 2009
    ....
  24. ncbi request reprint A novel Z-score-based method to analyze candidate genes for age-related hearing impairment
    Erik Fransen
    Department of Medical Genetics, University of Antwerp, Belgium
    Ear Hear 25:133-41. 2004
    ..Here we define and validate a quantitative trait value for ARHI, correcting for age and gender, to allow the genetic study of ARHI as a quantitative trait...
  25. ncbi request reprint Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease
    Kim Cryns
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Hum Mutat 22:275-87. 2003
    ..In this paper, we provide an overview of the currently known disease-causing and benign allele variants of WFS1 and propose a potential genotype-phenotype correlation for Wolfram syndrome and LFSNHI...
  26. ncbi request reprint Association between variations in CAT and noise-induced hearing loss in two independent noise-exposed populations
    Annelies Konings
    Department of Medical Genetics, University of Antwerp, B 2610 Antwerp, Belgium
    Hum Mol Genet 16:1872-83. 2007
    ..These results indicate that catalase is a NIHL susceptibility gene, but that the effect of CAT polymorphisms can only be detected when noise exposure levels are taken into account...
  27. ncbi request reprint A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families
    Fatemeh Alasti
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Int J Pediatr Otorhinolaryngol 72:249-55. 2008
    ..On the basis of the recognizable phenotype, we recommend mutation screening of TECTA in families with this hearing phenotype...
  28. pmc A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis
    Isabelle Schrauwen
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Am J Hum Genet 84:328-38. 2009
    ..Consistent with the GWA data, expression of RELN was confirmed in the inner ear and in stapes footplate specimens. In conclusion, we provide evidence that implicates RELN in the pathogenesis of otosclerosis...
  29. ncbi request reprint The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss
    Lut Van Laer
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Hum Mutat 27:786-95. 2006
    ..85N channels (i.e., the voltage at which 50% of the channels are open) differed from that of wild-type channels. Further genetic and physiological studies will be necessary to confirm these findings...
  30. pmc A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family
    Fatemeh Alasti
    Department of Medical Genetics, University of Antwerp, 2610 Antwerp, Belgium
    Am J Hum Genet 82:982-91. 2008
    ....
  31. pmc Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment
    Nele Hilgert
    Department of Medical Genetics, University of Antwerp UA, Antwerp, Belgium
    J Hum Genet 54:188-90. 2009
    ..These findings can be explained in two ways. Either nucleotide 1714 is a hot spot for mutations or, alternatively, missense mutations at this site confer a specific pathogenic gain-of-function or dominant-negative effect...
  32. ncbi request reprint GJB2 (connexin 26) mutations are not a major cause of hearing loss in the Indonesian population
    Rikkert L Snoeckx
    Department of Medical Genetics, University of Antwerp, Universiteitsplein, Antwerp, Belgium
    Am J Med Genet A 135:126-9. 2005
    ..No recurrent disease-causing mutation could be detected in this Indonesian population. These findings are in contrast with the results obtained in other populations where GJB2 is a major cause of congenital recessive hearing loss...
  33. ncbi request reprint Mice lacking Dfna5 show a diverging number of cochlear fourth row outer hair cells
    Lut Van Laer
    Department of Medical Genetics, University of Antwerp, Campus Drie Eiken, Universiteitsplein 1, B 2610 Antwerp, Belgium
    Neurobiol Dis 19:386-99. 2005
    ..In contrast to the results obtained in Dfna5-/- zebrafish, we did not observe different UDP-glucose dehydrogenase and hyaluronic acid levels in Dfna5-/- mice when compared to Dfna5+/+ mice...
  34. doi request reprint A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing
    Isabelle Schrauwen
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Am J Med Genet A 161:145-52. 2013
    ..We propose that this diagnostic testing approach represents a significant improvement in clinical practice as a standard diagnostic tool for children with hearing loss...
  35. pmc A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment
    Isabelle Schrauwen
    Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium
    Am J Hum Genet 91:636-45. 2012
    ..3 Ca(2+) channels. We show that genetic defects in CABP2 cause moderate-to-severe sensorineural hearing impairment. The mutation might cause a hypofunctional CaBP2 defective in Ca(2+) sensing and effector regulation in the inner ear...
  36. pmc GJB2 mutations and degree of hearing loss: a multicenter study
    Rikkert L Snoeckx
    Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B 2610 Antwerp, Belgium
    Am J Hum Genet 77:945-57. 2005
    ..Two genotypes--35delG/R143W (median 105 dB) and 35delG/dela(GJB6-D13S1830) (median 108 dB)--had significantly more-severe HI than that of 35delG homozygotes...
  37. pmc Function and expression pattern of nonsyndromic deafness genes
    Nele Hilgert
    Department of Medical Genetics, University of Antwerp UA, Belgium
    Curr Mol Med 9:546-64. 2009
    ..This review should provide auditory scientists the most relevant information for all identified nonsyndromic deafness genes...
  38. doi request reprint Genetic studies on noise-induced hearing loss: a review
    Annelies Konings
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Ear Hear 30:151-9. 2009
    ..In this review, we discuss the general properties of NIHL and mainly focus on the results of these first genetic association studies for NIHL...
  39. ncbi request reprint A novel DFNA5 mutation does not cause hearing loss in an Iranian family
    Lut Van Laer
    Department of Medical Genetics, University of Antwerp, Campus Drie Eiken, Universiteitsplein 1, B 2610, Antwerp, Belgium
    J Hum Genet 52:549-52. 2007
    ..This fact provides further support for the hypothesis that DFNA5-associated hearing loss is caused by a gain-of-function mutation...
  40. ncbi request reprint Age-related hearing impairment (ARHI): environmental risk factors and genetic prospects
    Erik Fransen
    Department of Medical Genetics, University of Antwerp UIA, Universiteitsplein 1, B 2610 Antwerp, Belgium
    Exp Gerontol 38:353-9. 2003
    ..The methodology to dissect the genetics of complex traits is still developing. Possible study designs to unravel the genetics of ARHI are discussed...
  41. doi request reprint COL1A1 association and otosclerosis: a meta-analysis
    Isabelle Schrauwen
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Am J Med Genet A 158:1066-70. 2012
    ..In aggregate, our analysis supports evidence for an association between COL1A1 and otosclerosis although effect sizes of the variants reported in the initial studies are likely to be an overestimate of true effect sizes...
  42. pmc Apoptosis in acquired and genetic hearing impairment: the programmed death of the hair cell
    Ken Op de Beeck
    Center of Medical Genetics, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium
    Hear Res 281:18-27. 2011
    ..We believe that these genes constitute a new functional class within the hearing loss field. Here, the contribution of apoptosis in the pathology of both acquired and genetic hearing impairment is reviewed...
  43. ncbi request reprint The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells
    Kim Cryns
    Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium
    Histochem Cell Biol 119:247-56. 2003
    ..Although there is nothing currently known about the function of wolframin, our results suggest that it may play a role in inner ear ion homeostasis as maintained by the canalicular reticulum...
  44. pmc Rare Variants in BMP2 and BMP4 Found in Otosclerosis Patients Reduce Smad Signaling
    Megan Ealy
    Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, Iowa, U S A Department of Medical Genetics, University of Antwerp, Antwerp, Belgium and Department of Otorhinolaryngology, University of Tubingen, Tubingen, Germany
    Otol Neurotol 35:395-400. 2014
    ..Genetic variation in BMP2 and BMP4 found in otosclerosis patients result in altered Smad signaling...
  45. ncbi request reprint DFNA5, a gene involved in hearing loss and cancer: a review
    Ken Op de Beeck
    Center of Medical Genetics, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium
    Ann Otol Rhinol Laryngol 121:197-207. 2012
    ..This finding indicates that DFNA5-associated hearing loss is attributable to a highly specific gain-of-function mutation. Interestingly, later reports revealed that DFNA5 also plays a role in tumor biology...
  46. ncbi request reprint Nonsyndromic hearing loss
    Lut Van Laer
    Department of Medical Genetics, University of Antwerp, Belgium
    Ear Hear 24:275-88. 2003
    ..This review attempts to give an overview of the current knowledge of the genes responsible for nonsyndromic hearing loss, their expression and functions in the cochlea...
  47. ncbi request reprint The etiology of otosclerosis: a combination of genes and environment
    Isabelle Schrauwen
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Laryngoscope 120:1195-202. 2010
    ....
  48. ncbi request reprint Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients
    Annelies Konings
    Department of Medical Genetics, University of Antwerp, Campus Drie Eiken, Universiteitsplein 1, Antwerp, Belgium
    Mitochondrion 8:377-82. 2008
    ..636A-->G in the 12SrRNA flanking tRNA(Phe) and m.990T-->C in 12SrRNA, may be new candidates for pathogenic HL variants. If the pathogenic nature of m.636A-->G can be confirmed, this would be the first NSHL mutation in tRNA(Phe)...
  49. pmc Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
    Nele Hilgert
    Department of Medical Genetics, University of Antwerp UA, Universiteitsplein 1, B 2610 Antwerp, Belgium
    Mutat Res 681:189-96. 2009
    ..This ability will greatly improve DNA diagnostics, provide epidemiological data on gene-based mutation frequencies, and reveal novel genotype-phenotype correlations...
  50. ncbi request reprint Deafness genes and their diagnostic applications
    Kim Cryns
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Audiol Neurootol 9:2-22. 2004
    ..In the present review, we describe the known deafness genes and we provide an overview of the current, routinely used diagnostic DNA tests...
  51. ncbi request reprint Mutation analysis of the GJB2 (connexin 26) gene in Egypt
    Rikkert L Snoeckx
    Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B 2610 Antwerp, Belgium
    Hum Mutat 26:60-1. 2005
    ..A dominant mutation at a highly conserved residue, p.Gly130Val, was found in the family with Vohwinkel syndrome...
  52. ncbi request reprint Is DFNA5 a susceptibility gene for age-related hearing impairment?
    Lut Van Laer
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Eur J Hum Genet 10:883-6. 2002
    ..No significant differences in genotypes between good hearing and hearing impaired individuals could be detected in either study design. We conclude that there exists no strong association between DFNA5 and ARHI...
  53. ncbi request reprint Circling behavior in the Ecl mouse is caused by lateral semicircular canal defects
    Kim Cryns
    Department of Medical Genetics, University of Antwerp, 2610 Antwerp, Belgium
    J Comp Neurol 468:587-95. 2004
    ..Investigation of the vestibuloocular reflex (VOR) in Ecl mice showed that their horizontal VOR on stimulation is virtually absent, which correlates with the morphological findings...
  54. doi request reprint Human hereditary hearing impairment: mouse models can help to solve the puzzle
    Karen Vrijens
    Department of Medical Genetics, University of Antwerp, Campus Drie Eiken, Universiteitsplein 1, 2610, Antwerp, Belgium
    Hum Genet 124:325-48. 2008
    ..However, we also discuss advances made in the field of age related hearing impairment by the use of mouse models and modifiers of hearing loss genes identified in mice...
  55. doi request reprint Characterization of the murine Dfna5 promoter and regulatory regions
    Karen Vrijens
    Department of Medical Genetics, University of Antwerp, Campus Drie Eiken, Universiteitsplein 1, B 2610 Antwerp, Belgium
    Gene 432:82-90. 2009
    ..Transfection with a reversely-oriented construct resulted in high transcriptional activity. We subsequently confirmed this antisense activity and identified a novel antisense transcript partly overlapping Dfna5...
  56. doi request reprint Heritability of audiometric shape parameters and familial aggregation of presbycusis in an elderly Flemish population
    Kelly Demeester
    Department of Otolaryngology, University UA and University Hospital of Antwerp UZA, Wilrijkstraat 10, 2650 Edegem, Belgium
    Hear Res 265:1-10. 2010
    ..The parameter 'Bulge Depth', instead of 'Concavity', seemed to be an important parameter for classifying subjects into 'susceptible' or 'resistant' to societal or intensive environmental exposure...
  57. ncbi request reprint Genetic association analysis in a clinically and histologically confirmed otosclerosis population confirms association with the TGFB1 gene but suggests an association of the RELN gene with a clinically indistinguishable otosclerosis-like phenotype
    Manou Sommen
    University of Antwerp, Department of Medical Genetics, Antwerp, Belgium Bajcsy Zsilinszky Hospital, ENT Department, Budapest and University of Debrecen, Medical and Health Science Center, Department of Otolaryngology and Head and Neck Surgery, Debrecen, Hungary
    Otol Neurotol 35:1058-64. 2014
    ..However, in this study, patients were used in which the presence of otosclerotic foci was confirmed by histologic investigation, in contrast to previous studies, that did not use histologic confirmation...
  58. ncbi request reprint A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1
    Melissa Thys
    Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, Antwerp, Belgium
    Eur J Hum Genet 15:362-8. 2007
    ..The overlap between the critical regions of these two families is a 1.06 Mb interval between the genetic markers D6S1036 (centromeric) and D6S406 (telomeric) on chromosome 6q13...
  59. ncbi request reprint Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations
    Kim Cryns
    Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B 2610 Antwerp, Belgium
    Hum Genet 110:389-94. 2002
    ..In contrast, 64% of the Wolfram syndrome mutations are inactivating. Our results indicate that only non-inactivating mutations in WFS1 are responsible for non-syndromic low-frequency hearing impairment...
  60. doi request reprint Genetics of otosclerosis
    Melissa Thys
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Otol Neurotol 30:1021-32. 2009
    ..The objective of this article is to review the genetics of otosclerosis with special attention for the links to the bone homeostasis of the otic capsule...
  61. doi request reprint Possible implication of NFKB1A and NKG2D genes in susceptibility to HTLV-1-associated myelopathy/tropical spastic paraparesis in Peruvian patients infected with HTLV-1
    Michael Talledo
    Instituto de Medicina Tropical Alexander von Humboldt, Universidad Peruana Cayetano Heredia, Lima, Peru
    J Med Virol 84:319-26. 2012
    ..Further replication studies in independent HTLV-1 patient groups should validate further these associations...
  62. pmc Pharmacological levels of Withaferin A (Withania somnifera) trigger clinically relevant anticancer effects specific to triple negative breast cancer cells
    Katarzyna Szarc vel Szic
    Laboratory of Protein Chemistry, Proteomics and Epigenetic Signaling PPES, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium
    PLoS ONE 9:e87850. 2014
    ....
  63. pmc Vestibular dysfunction in the epistatic circler mouse is caused by phenotypic interaction of one recessive gene and three modifier genes
    Kim Cryns
    Department of Medical Genetics, University of Antwerp, B 2610 Antwerp, Belgium
    Genome Res 12:613-7. 2002
    ..Genetic mapping made it possible to localize the Ecs-gene to chromosome 14 and the Ecl-genes to chromosome 3, 4, and 13. This study illustrates the feasibility of identifying genes for multifactorial traits in mice...
  64. ncbi request reprint GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation
    Akihiro Ohtsuka
    Department of Otorhinolaryngology, Shinshu University School of Medicine, 3 1 1 Asahi, 390 8621 Matsumoto, Japan
    Hum Genet 112:329-33. 2003
    ..Results were consistent with inheritance of the 235delC mutation from a common ancestor. The results of this study have important implications for genetic diagnostic testing for deafness in the Japanese population...
  65. ncbi request reprint Autosomal dominant low-frequency hearing impairment (DFNA6/14): a clinical and genetic family study
    Steven J H Bom
    Department of Otorhinolaryngology, University Medical Center, St Radboud, Nijmegen, The Netherlands
    Otol Neurotol 23:876-84. 2002
    ..To delineate the phenotype and genotype of an autosomal dominant low-frequency sensorineural nonsyndromic hearing impairment trait in relation to similar traits...
  66. ncbi request reprint GJB2: the spectrum of deafness-causing allele variants and their phenotype
    Hela Azaiez
    Department of Otolaryngology Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA
    Hum Mutat 24:305-11. 2004
    ..35delG carrier frequency in normal-hearing controls (P < 0.05), suggesting the existence of at least one other mutation outside the GJB2 coding region that does not complement GJB2 deafness-causing allele variants...
  67. ncbi request reprint A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations
    Markus Pfister
    Department of Otolaryngology, University of Tubingen, Germany
    Cell Physiol Biochem 14:369-76. 2004
    ..In several DFNA12 families mutations in TECTA, the gene encoding alpha-tectorin, were shown to cause hearing impairment (HI) with different phenotypes depending on the location of the mutation...
  68. ncbi request reprint Clinical presentation of DFNA8-DFNA12
    Paul J Govaerts
    University Department Otolaryngology, St Augustinus Hospital, Antwerp Wilrijk, Belgium
    Adv Otorhinolaryngol 61:60-5. 2002
  69. ncbi request reprint Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations
    Sai Prasad
    Molecular Otolaryngology Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA 52242, USA
    Am J Med Genet A 124:1-9. 2004
    ..We found DHPLC as accurate and reliable as direct sequencing but to be more rapid and cost effective. In addition, we report 11 novel disease-causing allele variants of SLC26A4...
  70. pmc Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study
    Ignacio del Castillo
    Unidad de Genetica Molecular, Hospital Ramon y Cajal, Madrid, Spain
    Am J Hum Genet 73:1452-8. 2003
    ..These results have important implications for the diagnosis and counseling of families with DFNB1 deafness...
  71. ncbi request reprint Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease
    Shin ichi Usami
    Department of Otorhinolaryngology, Shinshu University School of Medicine, 3 1 1 Asahi, Matsumoto 390 8621, Japan
    Eur J Hum Genet 11:744-8. 2003
    ....
  72. ncbi request reprint Progressive late-onset sensorineural hearing loss and vestibular impairment with vertigo (DFNA9/COCH): longitudinal analyses in a belgian family
    Francois X Lemaire
    Department of Otorhinolaryngology and Head and Neck Surgery, University Hospitals Leuven, Belgium
    Otol Neurotol 24:743-8. 2003
    ..To evaluate audiometric and vestibular signs and symptoms in a new DFNA9 family...
  73. ncbi request reprint A yeast model for the study of human DFNA5, a gene mutated in nonsyndromic hearing impairment
    Juraj Gregan
    Department of Zoology, University of Oxford, South Parks Road, Oxford OX1 3PS, UK
    Biochim Biophys Acta 1638:179-86. 2003
    ..Genetic interactions between heterologously expressed DFNA5 and a fission yeast cdc23 (mcm10) mutant support a possible link between DFNA5 and Mcm10 proteins...
  74. ncbi request reprint Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1)
    Ronald J E Pennings
    Department of Otorhinolaryngology, University Medical Centre St Radboud, Nijmegen, The Netherlands
    Arch Otolaryngol Head Neck Surg 129:421-6. 2003
    ....
  75. ncbi request reprint The influence of genetic variation in oxidative stress genes on human noise susceptibility
    Per Inge Carlsson
    Department of Audiology, Orebro University Hospital, Sweden
    Hear Res 202:87-96. 2005
    ..No significant differences were found between susceptible and resistant groups, providing no support for a major role of genetic variation of antioxidant enzymes in the susceptibility to NIHL...
  76. ncbi request reprint Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3
    Arjan P M de Brouwer
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands
    Am J Med Genet A 137:41-6. 2005
    ..The coding regions and exon-intron boundaries of four candidate genes, SOX4, MYLIP, CAP2, and RPEL1, were sequenced, but no mutations were identified...
  77. doi request reprint Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR
    Dana J Orten
    Department of Genetics, Boys Town National Research Hospital, Omaha, Nebraska 68164, USA
    Hum Mutat 29:537-44. 2008
    ..These results add considerably to the spectrum of EYA1 mutations associated with BOR and indicate that the BOR phenotype is an indication for molecular studies to diagnose EYA1-associated BOR...
  78. ncbi request reprint Phenotype description of a Dutch otosclerosis family with suggestive linkage to OTSC7
    Robert Jan Pauw
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Med Genet A 143:1613-22. 2007
    ..The detection rate of otospongiotic foci in our study group is similar compared to previous reports on CT data in consecutive otosclerosis patients who had stapes replacing surgery...
  79. ncbi request reprint Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus
    Nicole C Meyer
    Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USA
    Am J Med Genet A 143:1623-9. 2007
    ..The truncating nature of these mutations is consistent with loss-of-function, and therefore the existing TECTA knockout mouse mutant represents a good model in which to study DFNB21-related deafness...
  80. doi request reprint A new locus for otosclerosis, OTSC8, maps to the pericentromeric region of chromosome 9
    Insaf Bel Hadj Ali
    Unité d Epidémiologie Génétique et Moléculaire, Faculte de Medecine, 1007, Tunis, Tunisia
    Hum Genet 123:267-72. 2008
    ..16 Mb interval between the markers D9S970 and D9S1799. This region comprises the pericentromeric region on both arms of chromosome 9, a highly complex region containing many duplicated sequences...
  81. ncbi request reprint DFNA2/KCNQ4 and its manifestations
    Els M R De Leenheer
    Department of Otorhinolaryngology, University Medical Centre Nijmegen, The Netherlands
    Adv Otorhinolaryngol 61:41-6. 2002
  82. ncbi request reprint Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy
    Sedigheh Delmaghani
    Unité de Génétique des Déficits Sensoriels INSERM U587, Institut Pasteur, 25, rue du Docteur Roux, 75724 Paris Cedex 15, France
    Nat Genet 38:770-8. 2006
    ..Unlike previously described sensorineural deafness genes, all of which underlie cochlear cell pathologies, DFNB59 is the first human gene implicated in nonsyndromic deafness due to a neuronal defect...
  83. ncbi request reprint Clinical features of DFNA5
    Els M R De Leenheer
    Department of Otorhinolaryngology, University Medical Centre Nijmegen, The Netherlands
    Adv Otorhinolaryngol 61:53-9. 2002
  84. ncbi request reprint Monogenic nonsyndromic otosclerosis: audiological and linkage analysis in a large Greek pedigree
    Vassiliki Iliadou
    Audiology Unit, Department of Otorhinolaryngology, Aristotle University of Thessaloniki, AHEPA Hospital, GR 54006 Thessaloniki, Greece
    Int J Pediatr Otorhinolaryngol 70:631-7. 2006
    ..In addition, we looked for mutations in the NOG gene to rule out congenital stapes ankylosis syndrome...
  85. ncbi request reprint DFNA10/EYA4--the clinical picture
    Els M R De Leenheer
    Department of Otorhinolaryngology, University Medical Centre Nijmegen, The Netherlands
    Adv Otorhinolaryngol 61:73-8. 2002
  86. ncbi request reprint Clinical presentation of the DFNA loci where causative genes have not yet been cloned. DFNA4, DFNA6/14, DFNA7, DFNA16, DFNA20 and DFNA21
    Patrick L M Huygen
    Department of Otorhinolaryngology, University Medical Centre St Radboud, Nijmegen, The Netherlands
    Adv Otorhinolaryngol 61:98-106. 2002
  87. ncbi request reprint Further delineation of the DFNA5 phenotype: results of speech recognition tests
    Els M R De Leenheer
    Ann Otol Rhinol Laryngol 111:639-41. 2002
    ..4%/dB in the plot of maximum score against PTA1,2,4 kHz. Given the previously demonstrated rapid progression of hearing impairment, speech recognition was relatively good: at age 70, the score was still >50%...
  88. doi request reprint Doppler myocardial imaging in the diagnosis of early systolic left ventricular dysfunction in diabetic rats
    Caroline Weytjens
    Department of Cardiology, In Vivo Cellular and Molecular Imaging Center, University Hospital, Brussels, Belgium
    Eur J Echocardiogr 9:326-33. 2008
    ..To find out if Doppler myocardial imaging (DMI) can detect early signs of left ventricular (LV) dysfunction in a rat model of diabetic cardiomyopathy...
  89. ncbi request reprint Quantification of myocardial blood flow and assessment of its transmural distribution with real-time power modulation myocardial contrast echocardiography
    Guy Van Camp
    Dvision of Cardiology, Vrije Universiteit Brussel, Brussels, Belgium
    J Am Soc Echocardiogr 16:263-70. 2003
    ....
  90. ncbi request reprint Cardiac troponin T and malondialdehyde modified plasma lipids in haemodialysis patients
    Benjamin Scott
    Department of Nephrology, Academisch Ziekenhuis Vrije Universiteit Brussel, Belgium
    Nephrol Dial Transplant 18:737-42. 2003
    ..In this study we investigated possible causes of cTnT increase and its relationship with a marker of oxidative stress...
  91. pmc Molecular characterization of WFS1 in patients with Wolfram syndrome
    Johannes M W van ven Ouweland
    Department of Clinical Chemistry, Isala Klinieken, Weezenlanden, Zwolle, The Netherlands
    J Mol Diagn 5:88-95. 2003
    ....
  92. ncbi request reprint Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutations
    Ronald J E Pennings
    Department of Otorhinolaryngology, UMC St Radboud, Nijmegen, Belgium
    Audiol Neurootol 9:51-62. 2004
    ..The age of onset (90% phoneme recognition score) was 21 years and the onset level 78 dB HL. The deterioration rate was 4.0% per year and the deterioration gradient 1.4% per dB HL. One of the 6 examined patients had vestibular areflexia...
  93. pmc Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)
    Francesca Donaudy
    Telethon Institute of Genetics and Medicine, Dipartimento di Patologia Generale, Seconda Universita di Napoli, Naples, Italy
    Am J Hum Genet 74:770-6. 2004
    ..These findings clearly demonstrate the role of MYH14 in causing autosomal dominant hearing loss and further confirm the crucial role of the myosin superfamily in auditive functions...
  94. ncbi request reprint The phenotype of the first otosclerosis family linked to OTSC5
    Robert J Pauw
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, and Department of Radiology, Rijnstate Hospital, Arnhem, The Netherlands
    Otol Neurotol 27:308-15. 2006
    ..To report the audiometric and radiologic findings in the first otosclerosis family linked to OTSC5...
  95. ncbi request reprint Audiometric analyses confirm a cochlear component, disproportional to age, in stapedial otosclerosis
    Vedat Topsakal
    Department of Otorhinolaryngology, Antwerp University Hospital UZA, Belgium
    Otol Neurotol 27:781-7. 2006
    ..To report the preoperative audiometric profile of surgically confirmed otosclerosis...
  96. ncbi request reprint A deafness mutation isolates a second role for the tectorial membrane in hearing
    P Kevin Legan
    School of Life Sciences, University of Sussex, Falmer, Brighton, BN1 9QG, UK
    Nat Neurosci 8:1035-42. 2005
    ..Thus, using Tecta(Y1870C/+) mice, we have genetically isolated a second major role for the tectorial membrane in hearing: it enables the motion of the basilar membrane to optimally drive the inner hair cells at their best frequency...
  97. ncbi request reprint The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe
    Alessandra Maugeri
    Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands
    Eur J Hum Genet 10:197-203. 2002
    ..These results indicate a single origin of the 2588G>C mutation which, to our best estimate, occurred between 2400 and 3000 years ago...