Hannie Kremer

Summary

Affiliation: Radboud University Nijmegen Medical Centre
Country: The Netherlands

Publications

  1. pmc Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans
    Zubair M Ahmed
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, Rockville, Maryland 20850, USA
    Nat Genet 40:1335-40. 2008
  2. pmc The mitotic spindle protein SPAG5/Astrin connects to the Usher protein network postmitotically
    Ferry Fj Kersten
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Cilia 1:2. 2012
  3. ncbi request reprint Usher syndrome: molecular links of pathogenesis, proteins and pathways
    Hannie Kremer
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mol Genet 15:R262-70. 2006
  4. doi request reprint Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer
    Rob W J Collin
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur J Hum Genet 16:1430-6. 2008
  5. ncbi request reprint Phenotype description of a novel DFNA9/COCH mutation, I109T
    Robert J Pauw
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Ann Otol Rhinol Laryngol 116:349-57. 2007
  6. ncbi request reprint Vertical corneal striae in families with autosomal dominant hearing loss: DFNA9/COCH
    Anne M L C Bischoff
    Department of Otorhinolaryngology Head and Neck Surgery, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Ophthalmol 143:847-852. 2007
  7. ncbi request reprint Cochleovestibular and ocular features in a Dutch DFNA11 family
    Anne M L C Bischoff
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Otol Neurotol 27:323-31. 2006
  8. ncbi request reprint Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation
    Martijn H Kemperman
    Otorhinolaryngology, Radboud University Medical Center Nijmegen, Nijmegen, The Netherlands
    Otol Neurotol 26:926-33. 2005
  9. pmc Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction
    Margit Schraders
    Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, 6525 GA Nijmegen, The Netherlands
    Am J Hum Genet 86:604-10. 2010
  10. doi request reprint Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3
    Robert J Pauw
    Department of Otorhinolaryngology, Radboud University Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Arch Otolaryngol Head Neck Surg 134:294-300. 2008

Detail Information

Publications65

  1. pmc Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans
    Zubair M Ahmed
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, Rockville, Maryland 20850, USA
    Nat Genet 40:1335-40. 2008
    ..We provide evidence that in the primate lineage LRTOMT evolved from the fusion of two neighboring ancestral genes, which exist as separate genes (Lrrc51 and Tomt) in rodents...
  2. pmc The mitotic spindle protein SPAG5/Astrin connects to the Usher protein network postmitotically
    Ferry Fj Kersten
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Cilia 1:2. 2012
    ..abstract:..
  3. ncbi request reprint Usher syndrome: molecular links of pathogenesis, proteins and pathways
    Hannie Kremer
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mol Genet 15:R262-70. 2006
    ..A third link can be established to the integrin transmembrane signaling network. The Usher interactome, as outlined in this review, participates in pathways common in inner ear and retina that are disrupted in the Usher syndrome...
  4. doi request reprint Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer
    Rob W J Collin
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur J Hum Genet 16:1430-6. 2008
    ..In addition, this is the first report of a synonymous mutation that affects an ESE and causes hereditary hearing loss...
  5. ncbi request reprint Phenotype description of a novel DFNA9/COCH mutation, I109T
    Robert J Pauw
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Ann Otol Rhinol Laryngol 116:349-57. 2007
    ..This is a report of the audiological and vestibular characteristics of a Dutch DFNA9 family with a novel mutation, I109T, in the LCCL domain of COCH...
  6. ncbi request reprint Vertical corneal striae in families with autosomal dominant hearing loss: DFNA9/COCH
    Anne M L C Bischoff
    Department of Otorhinolaryngology Head and Neck Surgery, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Ophthalmol 143:847-852. 2007
    ..Investigation of a possible association between vertical corneal striae and mutations in the COCH gene, observed in four DFNA9 families with autosomal dominant hearing loss and vestibular dysfunction...
  7. ncbi request reprint Cochleovestibular and ocular features in a Dutch DFNA11 family
    Anne M L C Bischoff
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Otol Neurotol 27:323-31. 2006
    ..To report hearing impairment and vestibular and ocular features in a Dutch DFNA11 family and to compare these results to reported data on three other DFNA11 families...
  8. ncbi request reprint Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation
    Martijn H Kemperman
    Otorhinolaryngology, Radboud University Medical Center Nijmegen, Nijmegen, The Netherlands
    Otol Neurotol 26:926-33. 2005
    ..To perform genetic analysis and to analyze cochleovestibular impairment features in a newly identified Dutch family with nonsyndromic autosomal dominant hearing impairment (DFNA9)...
  9. pmc Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction
    Margit Schraders
    Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, 6525 GA Nijmegen, The Netherlands
    Am J Hum Genet 86:604-10. 2010
    ..The hearing loss is accompanied by vestibular dysfunction in all affected individuals. Although we show that PTPRQ is expressed in many tissues, no symptoms other than deafness were observed in the patients...
  10. doi request reprint Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3
    Robert J Pauw
    Department of Otorhinolaryngology, Radboud University Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Arch Otolaryngol Head Neck Surg 134:294-300. 2008
    ..To report on the audiometric characteristics of a large Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3 (OMIM 602460)...
  11. ncbi request reprint Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W
    Robert J Pauw
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Audiol Neurootol 12:77-84. 2007
    ..However, subtle differences in terms of onset age and rate of progression seem to exist...
  12. doi request reprint Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1
    Anne Martine R de Heer
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Audiol Neurootol 16:93-105. 2011
    ....
  13. doi request reprint Vestibular impairment in a Dutch DFNA15 family with an L289F mutation in POU4F3
    F J Wendy van Drunen
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, NL 6500 HB Nijmegen, The Netherlands
    Audiol Neurootol 14:303-7. 2009
    ..DFNA15 is the third cochleovestibular disorder, after DFNA9 and DFNA11, in the autosomal dominant nonsyndromic hearing impairment...
  14. pmc Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment
    Margit Schraders
    Department of Otorhinolaryngology, Head and Neck Surgery, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Radboud University Nijmegen, Nijmegen, The Netherlands
    Am J Hum Genet 86:138-47. 2010
    ..Quantitative analysis of GRXCR1 transcripts in fetal and adult human tissues revealed a preferential expression of the gene in fetal cochlea, which may explain the nonsyndromic nature of the hearing impairment...
  15. ncbi request reprint Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S)
    Vedat Topsakal
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, The Netherlands
    Otol Neurotol 26:52-8. 2005
    ..Genotype a family trait with autosomal dominant nonsyndromic sensorineural hearing impairment guided only by the phenotype...
  16. ncbi request reprint MPP1 links the Usher protein network and the Crumbs protein complex in the retina
    Ilse Gosens
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mol Genet 16:1993-2003. 2007
    ..These processes, essential in neural development and patterning of the retina, may be disrupted in eye disorders that are associated with defects in these protein networks...
  17. pmc Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding
    Rob W J Collin
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 29:545-54. 2008
    ..Furthermore, mutations in this gene do not seem to be a rare cause of hearing impairment in the Dutch population, and the POU4F3 gene may thus be suitable for implementation in diagnostic testing...
  18. pmc Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein
    Erwin Van Wijk
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mol Genet 18:51-64. 2009
    ..The direct association of Nlp(isoB) with USH2A(isoB) and lebercilin indicates that Nlp can be considered as a novel candidate gene for USH, LCA and allied retinal ciliopathies...
  19. pmc Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35
    Rob W J Collin
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, 6525 GA Nijmegen, The Netherlands
    Am J Hum Genet 82:125-38. 2008
    ..Our data indicate that ESRRB is essential for inner-ear development and function. To our knowledge, this is the first report of pathogenic mutations of an estrogen-related receptor gene...
  20. ncbi request reprint MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation
    Ersan Kalay
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Med Genet A 143:2382-9. 2007
    ....
  21. doi request reprint Association of whirlin with Cav1.3 (alpha1D) channels in photoreceptors, defining a novel member of the usher protein network
    Ferry F J Kersten
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Invest Ophthalmol Vis Sci 51:2338-46. 2010
    ..This study was undertaken to identify novel, Usher syndrome-associated, interacting partners of whirlin and thereby obtain more insights into the function of whirlin...
  22. pmc A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation
    Rutger F Plantinga
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Assoc Res Otolaryngol 7:173-81. 2006
    ....
  23. ncbi request reprint Mild and variable audiometric and vestibular features in a third DFNA15 family with a novel mutation in POU4F3
    Anne Martine R de Heer
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Ann Otol Rhinol Laryngol 118:313-20. 2009
    ..Cochleovestibular characteristics were investigated in a Dutch DFNA15 family with a novel POU4F3 mutation, L223P...
  24. ncbi request reprint Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family
    Arjan P M de Brouwer
    Department of Otorhinolaryngology, University Medical Center, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Hum Genet 112:156-63. 2003
    ..DFNB12 is the first human disorder that can be attributed to inherited missense mutations in the highly conserved residues of the extracellular calcium-binding domain of a cadherin...
  25. pmc Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations
    Nicole J D Weegerink
    Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    J Assoc Res Otolaryngol 12:753-66. 2011
    ..Evaluation of performance of patients with a cochlear implant indicated that this is a good treatment option for patients with TMPRSS3 mutations as satisfactory speech reception was reached after implantation...
  26. ncbi request reprint Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss
    Ersan Kalay
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 27:633-9. 2006
    ..Mutation screening of the LHFPL5 homologs LHFPL3 and LHFPL4 did not reveal any disease causing mutation. Our findings indicate that LHFPL5 is essential for normal function of the human cochlea...
  27. ncbi request reprint Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1
    Anne Martine R de Heer
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Ann Otol Rhinol Laryngol 118:382-90. 2009
    ..We analyzed the phenotype in a 5-generation DFNA20/26 family with a novel missense mutation in the ACTG1 gene (c.151G>A) and compared the findings to previous reports on DFNA20/26 families...
  28. ncbi request reprint Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12)
    Ronald J E Pennings
    Department of Otorhinolaryngology, UMC St Radboud, Nijmegen, The Netherlands
    Otol Neurotol 25:699-706. 2004
    ..To describe the findings of audiovestibular and ophthalmologic examinations in four families with mutations in the CDH23 gene...
  29. ncbi request reprint USH2A mutation analysis in 70 Dutch families with Usher syndrome type II
    Ronald J E Pennings
    Department of Otorhinolaryngology, UMC Nijmegen, The Netherlands
    Hum Mutat 24:185. 2004
    ..It is estimated that about 28% of the Dutch USH2 families have a different causative gene. Analysis of deduced haplotypes suggests that c.1256G>T (p.Cys419Phe) is a Dutch ancestral mutation, occurring in 16% of the alleles...
  30. pmc Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment
    Margit Schraders
    Department of Otorhinolaryngology, Head and Neck Surgery, Nijmegen, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 88:628-34. 2011
    ..We hypothesize that SMPX functions in inner ear development and/or maintenance in the IGF-1 pathway, the integrin pathway through Rac1, or both...
  31. ncbi request reprint Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): an analysis in 74 mutation carriers
    Anne M L C Bischoff
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Otol Neurotol 26:918-25. 2005
    ..To evaluate age-related features between progressive hearing and vestibular impairment of all mutation carriers (n = 74)...
  32. ncbi request reprint The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1
    Erwin Van Wijk
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mol Genet 15:751-65. 2006
    ..Our data show that whirlin is connected to the dynamic Usher protein interactome and indicate that whirlin has a pleiotropic function in both the retina and the inner ear...
  33. ncbi request reprint Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11)
    Mirjam W J Luijendijk
    Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands
    Hum Genet 115:149-56. 2004
    ....
  34. 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
    ....
  35. pmc Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment
    Margit Schraders
    Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 91:883-9. 2012
    ..This distinctive phenotype may represent a clue to orientate the molecular diagnosis...
  36. 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...
  37. pmc ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature
    Rob W J Collin
    Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands
    Proc Natl Acad Sci U S A 110:9856-61. 2013
    ..His455Tyr mutant ZNF408. Together, our data strongly suggest that mutant ZNF408 results in abnormal retinal vasculogenesis in humans and is associated with FEVR...
  38. ncbi request reprint Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment
    Rob W J Collin
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 28:718-23. 2007
    ..Together, our data indicate that also nonsense mutations in DFNB59 cause nonsyndromic hearing loss, but that mutations in DFNB59 are not a major cause of nonsyndromic hearing impairment in the Turkish and Dutch population...
  39. ncbi request reprint Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a
    Ronald J E Pennings
    Department of Ophthalmology, University Medical Centre St Radboud, Nijmegen, The Netherlands
    Acta Ophthalmol Scand 82:131-9. 2004
    ..To evaluate visual impairment in Usher syndrome 1b (USH1b) and Usher syndrome 2a (USH2a)...
  40. pmc Development of a genotyping microarray for Usher syndrome
    Frans P M Cremers
    Department of Human Genetics, and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Med Genet 44:153-60. 2007
    ..Thus far, eight genes have been implicated in the syndrome, together comprising 347 protein-coding exons...
  41. ncbi request reprint The benign concentric annular macular dystrophy locus maps to 6p12.3-q16
    Janneke J C van Lith-Verhoeven
    Department of Ophthalmology, University Medical Center Nijmegen, Nijmegen, The Netherlands
    Invest Ophthalmol Vis Sci 45:30-5. 2004
    ..To describe the clinical findings and to identify the genetic locus in a Dutch family with autosomal dominant benign concentric annular macular dystrophy (BCAMD)...
  42. doi request reprint SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma
    Henricus P M Kunst
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Clin Cancer Res 17:247-54. 2011
    ..We recently described mutations in a previously uncharacterized human gene, now called SDHAF2, and showed that this was the long-sought "imprinted" PGL2 gene. Here, we present a new branch of the Dutch SDHAF2 (PLG2-SDH5) family...
  43. doi request reprint Positional cloning of deafness genes
    Hannie Kremer
    Department of Otorhinolaryngology, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Methods Mol Biol 493:215-38. 2009
    ..Once genetic variants are identified, questions on pathogenicity need to be addressed, which is the topic of the last section of this chapter...
  44. pmc Similar phenotypes caused by mutations in OTOG and OTOGL
    Anne M M Oonk
    1Department of Otorhinolaryngology, Hearing and Genes, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands 2Radboud University Nijmegen Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands 3Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands 4Programa de Medicina Molecular i Genètica, Hospital Vall d Hebron, Barcelona, Spain 5Unitat de Genètica, Universitat Pompeu Fabra, Barcelona, Spain 6Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER, Madrid, Spain 7Unidad de Genética Molecular, Hospital Universitario Ramon y Cajal, IRYCIS, Madrid, Spain 8John P Hussman Institute for Human Genomics, University of Miami, Miami, Florida, USA 9Dr John T Macdonald Department of Human Genetics, University of Miami, Miami, Florida, USA 10Division of Pediatric Genetics, Ankara University School of Medicine, Ankara, Turkey and 11Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands
    Ear Hear 35:e84-91. 2014
    ....
  45. ncbi request reprint BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy
    Bart P C van de Warrenburg
    Department of Neurology, Radboud University Nijmegen Medical Centre, 326, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Neuromuscul Disord 16:122-5. 2006
    ....
  46. ncbi request reprint A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment
    Martijn H Kemperman
    Department of Otorhinolaryngology, University Medical Center Nijmegen, Nijmegen, The Netherlands
    Arch Otolaryngol Head Neck Surg 130:281-8. 2004
    ..To perform linkage analysis and to outline hearing loss characteristics in a family exhibiting a nonsyndromic, autosomal dominant type of progressive sensorineural hearing loss...
  47. ncbi request reprint A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation
    Anne M L C Bischoff
    Department of Otorhinolaryngology, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    Audiol Neurootol 9:34-46. 2004
    ..The second mutation identified in the DFNA5 gene results in hearing impairment, similar to that in the original DFNA5 family in terms of pure-tone thresholds, but with more favourable speech recognition...
  48. doi request reprint Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family
    Eva Morava
    Radboud University Nijmegen, Department of Pediatrics, Nijmegen, The Netherlands
    J Clin Endocrinol Metab 96:E189-98. 2011
    ..Mutations in ANKH cause the highly divergent conditions familial chondrocalcinosis and craniometaphyseal dysplasia. The gene product ANK is supposed to regulate tissue mineralization by transporting pyrophosphate to the extracellular space...
  49. ncbi request reprint GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations
    Ersan Kalay
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    Hear Res 203:88-93. 2005
    ..Besides 35delG, W24X and delE120 occur more than once in the Turkish ARNSHL population with a frequency of about 5%...
  50. ncbi request reprint A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases
    Kornelia Neveling
    Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 34:1721-6. 2013
    ..Even if all genes that could have been ordered by physicians had been tested, the larger number of genes captured by the exome would still have led to a clearly superior diagnostic yield at a fraction of the cost. ..
  51. pmc Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II
    Erwin Van Wijk
    Department of Otorhinolaryngology, University Medical Center Nijmegen, Nijmegen, The Netherlands
    Am J Hum Genet 74:738-44. 2004
    ..The presence of pathogenic mutations in the novel exons indicates that at least one of the putative long isoforms of the USH2A protein plays a role in both hearing and vision...
  52. ncbi request reprint Comparison of 12 reference genes for normalization of gene expression levels in Epstein-Barr virus-transformed lymphoblastoid cell lines and fibroblasts
    Arjan P M de Brouwer
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Mol Diagn Ther 10:197-204. 2006
    ..Hence, the choice of reference gene is critical in all experiments that require normalization of expression data...
  53. ncbi request reprint Molecular diagnosis of hereditary hearing impairment
    Hannie Kremer
    Department of Otorhinolaryngology, University Medical Center Nijmegen, The Netherlands
    Adv Otorhinolaryngol 61:11-27. 2002
  54. ncbi request reprint Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and connexin 30 (GJB6) mutations
    Christel Stinckens
    Department of Otorhinolaryngology, University Hospitals Leuven, Leuven, Belgium
    Ann Otol Rhinol Laryngol 113:587-93. 2004
    ..There was no significant difference in hearing impairment between the patients with the homozygous 35delG mutation in GJB2 and those who are heterozygous for both the 35delG mutation and the deletion encompassing part of GJB6...
  55. ncbi request reprint Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations
    Regie Lyn P Santos
    Department of Epidemiology and Biostatistics, Genetic Epidemiology Unit, Erasmus Medical Center Rotterdam, Dr Molewaterplein 50, 3015 GE Rotterdam, The Netherlands
    Int J Pediatr Otorhinolaryngol 69:165-74. 2005
    ..We hereby describe the hearing impairment in Dutch patients with biallelic connexin 26 (GJB2) and GJB2+connexin 30 (GJB6) mutations...
  56. 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...
  57. 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...
  58. 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)...
  59. ncbi request reprint A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells
    Tina Maerker
    Department of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, 55099 Mainz, Germany
    Hum Mol Genet 17:71-86. 2008
    ..Since this structural specialization in amphibian photoreceptor cells defines a specialized membrane domain for docking and fusion of transport vesicles, we suggest a prominent role of the USH proteins in cargo shipment...
  60. 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...
  61. ncbi request reprint Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9)
    Rob W J Collin
    Am J Med Genet A 140:1791-4. 2006
  62. ncbi request reprint Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction
    Nahid G Robertson
    Department of Pathology, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
    Hum Mol Genet 15:1071-85. 2006
    ....
  63. ncbi request reprint Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2
    Jan Reiners
    Department of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, Germany
    Hum Mol Genet 14:3933-43. 2005
    ..These findings provide first evidence for a molecular linkage between the pathophysiology in USH1 and USH2. The organization of USH molecules in a mutual 'interactome' related to the disease can explain the common phenotype in USH...
  64. 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...
  65. 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...