F P Cremers

Summary

Affiliation: University Medical Center Nijmegen
Country: The Netherlands

Publications

  1. ncbi Genetic causes of hearing loss
    F P Cremers
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    Curr Opin Neurol 11:11-6. 1998
  2. ncbi Molecular genetics of Leber congenital amaurosis
    Frans P M Cremers
    Department of Human Genetics, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Hum Mol Genet 11:1169-76. 2002
  3. ncbi Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR
    F P Cremers
    Department of Human Genetics, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Hum Mol Genet 7:355-62. 1998
  4. pmc Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy
    A Maugeri
    Department of Human Genetics, University Medical Centre Nijmegen, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 67:960-6. 2000
  5. pmc Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene
    A I den Hollander
    Department of Human Genetics, University Medical Centre Nijmegen, Geert Grooteplein 10, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 69:198-203. 2001
  6. pmc The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease
    A Maugeri
    Department of Human Genetics, University Hospital Nijmegen, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 64:1024-35. 1999
  7. ncbi CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila
    A I den Hollander
    Department of Human Genetics, University Medical Centre Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Hum Mol Genet 10:2767-73. 2001
  8. ncbi Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene
    J A van den Hurk
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    Hum Mutat 9:110-7. 1997
  9. ncbi Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1
    R Roepman
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    Hum Mol Genet 5:1035-41. 1996
  10. ncbi Cloning and characterization of the human choroideremia gene
    H van Bokhoven
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    Hum Mol Genet 3:1041-6. 1994

Detail Information

Publications86

  1. ncbi Genetic causes of hearing loss
    F P Cremers
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    Curr Opin Neurol 11:11-6. 1998
    ..Most importantly, the connexin 26 gene is mutated in approximately 50% of all recessive deafness families, enabling early diagnosis and carrier detection...
  2. ncbi Molecular genetics of Leber congenital amaurosis
    Frans P M Cremers
    Department of Human Genetics, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Hum Mol Genet 11:1169-76. 2002
    ..Based on experimental evidence in mice and dogs, patients with disturbed retinal metabolism of vitamin A through a mutation in the RPE65 gene will likely be the first candidates for future therapeutic trials...
  3. ncbi Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR
    F P Cremers
    Department of Human Genetics, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Hum Mol Genet 7:355-62. 1998
    ..Since the heterozygote frequency for ABCR mutations is estimated at 0.02, mutations in ABCR might be an important cause of autosomal recessive and sporadic forms of RP and CRD...
  4. pmc Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy
    A Maugeri
    Department of Human Genetics, University Medical Centre Nijmegen, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 67:960-6. 2000
    ....
  5. pmc Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene
    A I den Hollander
    Department of Human Genetics, University Medical Centre Nijmegen, Geert Grooteplein 10, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 69:198-203. 2001
    ..Our findings suggest that CRB1 mutations are a frequent cause of LCA and are strongly associated with the development of Coats-like exudative vasculopathy in patients with RP...
  6. pmc The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease
    A Maugeri
    Department of Human Genetics, University Hospital Nijmegen, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 64:1024-35. 1999
    ..Given an STGD incidence of 1/10,000, homozygosity for the 2588G-->C mutation or compound heterozygosity for this and other mild ABCR mutations probably does not result in an STGD phenotype...
  7. ncbi CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila
    A I den Hollander
    Department of Human Genetics, University Medical Centre Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Hum Mol Genet 10:2767-73. 2001
    ..This suggests that CRB1 organizes an intracellular protein scaffold in the human retina. Human homologues of proteins binding to Crumbs may be part of this complex and represent candidate genes for retinal dystrophies...
  8. ncbi Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene
    J A van den Hurk
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    Hum Mutat 9:110-7. 1997
    ..Interestingly, these are all nonsense, frameshift or splice-site mutations; with one possible exception, missense mutations have not been found. This comprises all the known mutations in the disease...
  9. ncbi Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1
    R Roepman
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    Hum Mol Genet 5:1035-41. 1996
    ..Our findings suggest that we have cloned the long-sought RP3 gene, and that it may encode the GEF of a retina-specific GTP-binding protein...
  10. ncbi Cloning and characterization of the human choroideremia gene
    H van Bokhoven
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    Hum Mol Genet 3:1041-6. 1994
    ..Cloning of the 5' end of the CHM gene and the elucidation of its intron-exon structure enabled us to localize the X-chromosomal breakpoint in a CHM female with an X;7 translocation between exons 3 and 4...
  11. ncbi A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation
    H G Yntema
    Department of Human Genetics, University Hospital Nijmegen, Nijmegen, 6500 HB, The Netherlands
    Genomics 62:332-43. 1999
    ..Further mutation analyses in males with X-linked mental retardation must prove that RSK4 is indeed a novel MRX gene...
  12. ncbi The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors
    R Roepman
    Department of Human Genetics, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Hum Mol Genet 9:2095-105. 2000
    ..These results provide a clue for the retina-specific pathogenesis in RP3, and hint towards the involvement of RPGR and RPGRIP1 in mediating vesicular transport-associated processes...
  13. ncbi Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)
    A I den Hollander
    Department of Human Genetics, University Hospital Nijmegen, Geert Grooteplein 10, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Nat Genet 23:217-21. 1999
    ..The distinct RPE abnormalities observed in RP12 patients suggest that CRB1 mutations trigger a novel mechanism of photoreceptor degeneration...
  14. ncbi Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22
    A I den Hollander
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    Hum Genet 104:73-6. 1999
    ..7-cM interval between markers D17S1607 and D17S948. Two positional candidate genes, the retina-specific amine oxidase (RAO) gene (AOC2) and the cone transducin gamma gene (GNGT2), were excluded...
  15. ncbi Isolation and mapping of novel candidate genes for retinal disorders using suppression subtractive hybridization
    A I den Hollander
    Department of Human Genetics, University Hospital Nijmegen, Nijmegen, 6500 HB, The Netherlands
    Genomics 58:240-9. 1999
    ..5-megabase critical region for autosomal recessive retinitis pigmentosa (RP12). Another cDNA was assigned to the 7.7-cM RP17 linkage interval. Seven cDNAs colocalized with four loci involved in Bardet-Biedl syndrome...
  16. ncbi Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1
    S M van der Maarel
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    Hum Mol Genet 5:887-97. 1996
    ..Moreover, weaker sequence similarity was observed between coding regions and two other ESTs...
  17. ncbi The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation
    Y J de Kok
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    Hum Mutat 10:207-11. 1997
    ..Since these domains constitute only 35% of the open reading frame of POU3F4, there is a statistically significant preference for mutations in the POU-specific and POU homeodomain...
  18. ncbi Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline
    J A van den Hurk
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    Hum Mol Genet 6:851-8. 1997
    ..Consequently, conditional rescue of the embryonic lethal phenotype of the rep-1 mutation may provide a faithful mouse model for choroideremia...
  19. pmc Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases
    F P Cremers
    Department of Human Genetics, Radboud Hospital, Nijmegen, The Netherlands
    Am J Hum Genet 47:622-8. 1990
    ..The clones isolated from the TCD locus are valuable diagnostic markers for deletion analysis of patients or carrier females. In addition, they should be useful for the isolation of expressed sequences that are part of the TCD gene...
  20. ncbi A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects
    Y J de Kok
    Department of Human Genetics and Department of Otorhinolaryngology, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Hum Mol Genet 8:361-6. 1999
    ..The mutant serine at position 51 is situated between cysteines and possibly interferes with proper COCH protein folding or its interaction with extracellular matrix proteins...
  21. ncbi Cloning of a gene that is rearranged in patients with choroideraemia
    F P Cremers
    Department of Human Genetics, University of Nijmegen, The Netherlands
    Nature 347:674-7. 1990
    ..Elucidation of its function should provide new insights into the molecular mechanisms responsible for this disorder and other hereditary retinopathies...
  22. ncbi Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
    Y J de Kok
    Department of Human Genetics, University Hospital Nijmegen, Netherlands
    Science 267:685-8. 1995
    ..These findings indicate that POU3F4 mutations are a molecular cause of DFN3...
  23. ncbi cDNA cloning and chromosomal localization of the genes encoding the alpha- and beta-subunits of human Rab geranylgeranyl transferase: the 3' end of the alpha-subunit gene overlaps with the transglutaminase 1 gene promoter
    H van Bokhoven
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    Genomics 38:133-40. 1996
    ..These results suggest that cis-acting factors for cell-type-specific transcription of one gene are located within the transcribed region of a functionally unrelated gene...
  24. ncbi Isolation of a candidate gene for Norrie disease by positional cloning
    W Berger
    Department of Human Genetics, University of Nijmegen, The Netherlands
    Nat Genet 1:199-203. 1992
    ..No homologous sequences were found in DNA and protein databases indicating that this cDNA is part of a gene encoding a 'pioneer' protein...
  25. pmc Three RFLPs for pZ11 (DXS540) in the choroideremia gene at Xq21.2
    C M Molloy
    Department of Human Genetics, University Hospital, Nijmegen, The Netherlands
    Nucleic Acids Res 20:1434. 1992
  26. ncbi An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q
    F P Cremers
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    Hum Mol Genet 1:71-5. 1992
    ..The colocalization of hCHML and Usher syndrome type II, as well as the clinical similarities between choroideremia and Usher syndrome type II, make hCHML a candidate gene for this disorder...
  27. pmc Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus
    Camiel J F Boon
    Department of Ophthalmology, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Br J Ophthalmol 91:1504-11. 2007
    ..To describe the phenotype and to analyse the peripherin/RDS gene in 10 unrelated families with multifocal pattern dystrophy simulating Stargardt disease (STGD1)...
  28. ncbi L1 retrotransposition can occur early in human embryonic development
    José A J M van den Hurk
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Hum Mol Genet 16:1587-92. 2007
    ..These findings provide evidence that L1 retrotransposition can occur very early in human embryonic development...
  29. ncbi 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...
  30. ncbi Towards understanding CRUMBS function in retinal dystrophies
    Mélisande Richard
    Institut fur Genetik, Heinrich Heine Universitat Dusseldorf, Universitatsstrasse 1, 40225 Dusseldorf, Germany
    Hum Mol Genet 15:R235-43. 2006
    ....
  31. ncbi CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis
    Suzanne Yzer
    McGill Ocular Genetics Centre, Division of Ophthalmology, Montreal, Quebec, Canada
    Invest Ophthalmol Vis Sci 47:3736-44. 2006
    ....
  32. pmc Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
    Anneke I den Hollander
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 79:556-61. 2006
    ..CEP290 mutations therefore represent one of the most frequent causes of LCA identified so far...
  33. ncbi 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...
  34. ncbi Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis
    Suzanne Yzer
    The Rotterdam Eye Hospital, Rotterdam, The Netherlands
    Invest Ophthalmol Vis Sci 47:1167-76. 2006
    ....
  35. ncbi Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles
    Jana Zernant
    Department of Ophthalmology, Eye Institute Research, Columbia University, 630 West 168th Street, New York, NY 10032, USA
    Invest Ophthalmol Vis Sci 46:3052-9. 2005
    ..Genetically heterogeneous inheritance complicates the analyses of LCA cases, especially in patients without a family history of the disorder, and conventional methods are of limited value...
  36. ncbi 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. ncbi 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...
  38. ncbi Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa
    Anneke I den Hollander
    Department of Human Genetics, Radboud University, Nijmegen Medical Centre, Nijmegen, The Netherlands
    Arch Ophthalmol 125:932-5. 2007
    ..To describe the clinical characteristics and determine the genetic defect in a Surinamese family with autosomal recessive retinitis pigmentosa...
  39. doi Leber congenital amaurosis: genes, proteins and disease mechanisms
    Anneke I den Hollander
    Department of Human Genetics and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Prog Retin Eye Res 27:391-419. 2008
    ....
  40. pmc Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing
    John Neidhardt
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Switzerland
    Mol Vis 14:1081-93. 2008
    ..The goal of this study was to identify mutations in X-chromosomal genes associated with retinitis pigmentosa (RP) in patients from Germany, The Netherlands, Denmark, and Switzerland...
  41. doi Composition and function of the Crumbs protein complex in the mammalian retina
    Ilse Gosens
    Department of Human Genetics and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Geert Grooteplein zuid 10, PO Box 9101, 6500 HB, Nijmegen, The Netherlands
    Exp Eye Res 86:713-26. 2008
    ....
  42. pmc Basal laminar drusen caused by compound heterozygous variants in the CFH gene
    Camiel J F Boon
    Department of Ophthalmology, Radboud University Nijmegen Medical Centre, 6525 GA Nijmegen, The Netherlands
    Am J Hum Genet 82:516-23. 2008
    ..Our findings strongly suggest that monogenic inheritance of CFH variants can result in basal laminar drusen in young adults, and this can progress to maculopathy and severe vision loss later in life...
  43. ncbi Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays
    Anneke I den Hollander
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Invest Ophthalmol Vis Sci 48:5690-8. 2007
    ..Thus far, mutations in 13 genes have been associated with autosomal recessive LCA and juvenile RP. The purpose of this study was to use homozygosity mapping to identify mutations in known LCA and juvenile RP genes...
  44. ncbi Identification and functional characterization of a novel MYOC mutation in two primary open angle glaucoma families from The Netherlands
    Barend F T Hogewind
    Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Mol Vis 13:1793-801. 2007
    ..The purpose of this study was identification and functional characterization of MYOC mutations in adult-onset, high-pressure POAG patients from The Netherlands...
  45. ncbi FERM protein EPB41L5 is a novel member of the mammalian CRB-MPP5 polarity complex
    Ilse Gosens
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Geert Grooteplein zuid 10, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    Exp Cell Res 313:3959-70. 2007
    ..Our results emphasize the importance of a conserved Crumbs-MPP5-EPB41L5 polarity complex in mammals...
  46. ncbi Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease
    Suzanne Yzer
    The Rotterdam Eye Hospital, Rotterdam, The Netherlands
    Mol Vis 13:1568-72. 2007
    ..To identify the causative gene mutations in three siblings with severe progressive autosomal recessive cone-rod dystrophy (arCRD) and their fifth paternal cousin with Stargardt disease (STGD1) and to specify the phenotypes...
  47. ncbi Clinical and genetic heterogeneity in multifocal vitelliform dystrophy
    Camiel J F Boon
    Department of Ophthalmology, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Arch Ophthalmol 125:1100-6. 2007
    ..To describe the clinical and genetic findings in 15 patients with multifocal vitelliform lesions...
  48. ncbi Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions
    Robert K Koenekoop
    McGill Ocular Genetics Center, McGill University Health Center, Montreal, Quebec, Canada
    Clin Experiment Ophthalmol 35:473-85. 2007
    ..Genetic testing will then become standard practice to complement the ophthalmic evaluation...
  49. ncbi MPP5 recruits MPP4 to the CRB1 complex in photoreceptors
    Albena Kantardzhieva
    Netherlands Ophthalmic Research Institute, Amsterdam
    Invest Ophthalmol Vis Sci 46:2192-201. 2005
    ..This study was focused on the identification, subcellular localization, and binding characteristics of a novel member of the protein scaffold connected to CRB1...
  50. ncbi Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis
    José A J M van den Hurk
    Department of Human Genetics, Radboud Univerisity Nijmegen Medical Center, Nijmegen, The Netherlands
    Mol Vis 11:263-73. 2005
    ..3 and 19p13.3. The purpose of this study was to characterize the Crumbs homolog 2 (CRB2) gene on 9q33.3, to analyze its expression pattern, and to determine whether mutations in CRB2 are associated with RP and LCA...
  51. ncbi Isolation of Crb1, a mouse homologue of Drosophila crumbs, and analysis of its expression pattern in eye and brain
    Anneke I den Hollander
    Department of Human Genetics, University Medical Centre Nijmegen, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Mech Dev 110:203-7. 2002
    ..2. In the adult brain, Crb1 expression is defined to areas where the production and migration of neurons occurs in adulthood...
  52. 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...
  53. ncbi 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)...
  54. ncbi A peculiar autosomal dominant macular dystrophy caused by an asparagine deletion at codon 169 in the peripherin/RDS gene
    Janneke J C van Lith-Verhoeven
    Department of Ophthalmology, University Medical Center Nijmegen, The Netherlands
    Arch Ophthalmol 121:1452-7. 2003
    ..To describe the clinical and genetic findings in a family with a peculiar autosomal dominant macular dystrophy with peripheral deposits...
  55. ncbi Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram
    Christina Zeitz
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland
    Invest Ophthalmol Vis Sci 46:4328-35. 2005
    ..Mice lacking the metabotropic glutamate receptor 6 (Grm6) have a defect in signal transmission from the photoreceptors to ON-bipolar cells. In the current study, the human orthologue (GRM6) was screened as a likely candidate for arCSNB...
  56. ncbi Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea
    Janneke J C van Lith-Verhoeven
    Department of Ophthalmology, University Medical Center Nijmegen, Nijmegen, The Netherlands
    Mol Vis 9:138-43. 2003
    ....
  57. ncbi 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...
  58. ncbi Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene
    B Jeroen Klevering
    Department of Ophthalmology, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    Invest Ophthalmol Vis Sci 43:1980-5. 2002
    ..To describe the phenotype of 12 patients with autosomal recessive or isolated cone-rod types of progressive retinal degeneration (CRD) caused by mutations in the ABCA4 gene...
  59. ncbi 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...
  60. pmc Central areolar choroidal dystrophy associated with dominantly inherited drusen
    B Jeroen Klevering
    Department of Ophthalmology, University Medical Center Nijmegen, Nijmegen, Netherlands
    Br J Ophthalmol 86:91-6. 2002
    ..To describe the clinical and genetic aspects of a retinal dystrophy that combines central areolar choroidal dystrophy (CACD) and autosomal dominantly inherited drusen...
  61. ncbi Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa
    B Jeroen Klevering
    Department of Ophthalmology, University Medical Centre Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Ophthalmology 111:546-53. 2004
    ..To investigate the clinical spectrum and molecular causes of retinal dystrophies in 3 families...
  62. ncbi The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene
    B Jeroen Klevering
    Department of Ophthalmology, University Medical Centre Nijmegen, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    Graefes Arch Clin Exp Ophthalmol 243:90-100. 2005
    ..In this study, we demonstrate the spectrum of retinal dystrophies associated with ABCA4 gene mutations...
  63. ncbi A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy
    Alessandra Maugeri
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Geert Grooteplein 10, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Invest Ophthalmol Vis Sci 45:4263-7. 2004
    ..To conduct clinical and genetic studies in a European family with autosomal dominant Stargardt-like macular dystrophy (adSTGD-like MD) and to investigate the functional consequences of a novel ELOVL4 mutation...
  64. ncbi CRB1 mutation spectrum in inherited retinal dystrophies
    Anneke I den Hollander
    Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands
    Hum Mutat 24:355-69. 2004
    ..In this article, we provide an overview of the currently known CRB1 sequence variants, predict their effect, and propose a genotype-phenotype correlation model for CRB1 mutations...
  65. ncbi Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa
    B Jeroen Klevering
    Department of Ophthalmology, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    Eur J Hum Genet 12:1024-32. 2004
    ..When detectable, ERG recordings in these patients demonstrated rod-cone patterns of photoreceptor degeneration. In conclusion, in this study, we show that the ABCA4 mutation chip is an efficient first screening tool for arCRD...
  66. ncbi Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues
    Wei Shi
    Max Planck Institute for Molecular Genetics, Berlin Dahlem, Germany
    Dev Biol 272:53-65. 2004
    ..spretus X-chromosome rather than a modifier effect. Our results demonstrate that Chm is essential for diploid trophoblast development and plays a role in the vascularization in placenta and yolk sac...
  67. pmc Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations
    Ronald Roepman
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    Proc Natl Acad Sci U S A 102:18520-5. 2005
    ..Thus, we provide evidence for the involvement of this disrupted interaction in the retinal dystrophy of both SLSN and LCA patients...
  68. ncbi Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene
    Sioe Lie Go
    Department of Ophthalmology, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    Invest Ophthalmol Vis Sci 44:4035-43. 2003
    ..To investigate the clinical features and molecular causes of autosomal dominant rhegmatogenous retinal detachment (RRD) in two large families...
  69. 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...
  70. 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...
  71. ncbi 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)...
  72. doi The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene
    Camiel J F Boon
    Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Prog Retin Eye Res 27:213-35. 2008
    ..Finally, we review the proposed genotype-phenotype correlation and the pathophysiologic mechanisms underlying this group of retinal dystrophies...
  73. ncbi Novel human pathological mutations. Gene symbol: MYOC. Disease: primary open angle glaucoma
    Arijit Mukhopadhyay
    Radboud Univ Nijmegen Med Centre, Department of Human Genetics, Geert Grootplein, 10, 6525 GA, Nijmegen, Netherlands
    Hum Genet 122:553. 2007
  74. ncbi CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
    Susanne Kohl
    Molekulargenetisches Labor, Universitäts Augenklinik Tübingen, Abt Pathophysiologie des Sehens und Neuroophthalmologie, Germany
    Eur J Hum Genet 13:302-8. 2005
    ..This indicates that the CNGB3/ACHM3 locus on chromosome 8q21 is the major locus for achromatopsia in patients of European origin or descent...
  75. ncbi Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon
    José A J M van den Hurk
    Department of Human Genetics, University Medical Center Nijmegen, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    Hum Genet 113:268-75. 2003
    ..Finally, in an affected male who did not have a mutation in any of the CHM exons or their splice sites, the deletion of a complete exon from the CHM mRNA was observed...
  76. ncbi Leber congenital amaurosis: ciliary proteins on the move
    Robert K Koenekoop
    Ophthalmic Genet 28:111-2. 2007
  77. 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...
  78. ncbi 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
    ....
  79. ncbi Autosomal dominant rhegmatogenous retinal detachment--clinical appearance and surgical outcome
    Thomas Theelen
    Department of Ophthalmology, University Medical Centre Nijmegen, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Graefes Arch Clin Exp Ophthalmol 242:892-7. 2004
    ..To study the clinical appearance and surgical results of autosomal dominantly inherited rhegmatogenous retinal detachments (RRDs)...
  80. ncbi 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...
  81. ncbi Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram
    Agnes B Renner
    Department of Ophthalmology, Charite Universitatsmedizin Berlin, Campus Benjamin Franklin, Berlin, Germany
    Ophthalmology 113:2066.e1-10. 2006
    ..To analyze the variability of clinical and electrophysiological characteristics in X-linked choroideremia and provide the first report of a negative electroretinogram in choroideremia...
  82. ncbi Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants
    Arijit Mukhopadhyay
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands
    Invest Ophthalmol Vis Sci 47:3565-72. 2006
    ..We investigated whether CSPG2/Versican was mutated in six Dutch families and one Chinese family with Wagner disease and in a family with ERVR...
  83. ncbi 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...
  84. ncbi Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome
    Valeska Frank
    Department of Human Genetics, RWTH Aachen University, Aachen, Germany
    Hum Mutat 29:45-52. 2008
    ..Conclusively, other factors than the type and location of CEP290 mutations may underlie phenotypic variability...
  85. ncbi 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...
  86. ncbi Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis
    Anneke I den Hollander
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Nat Genet 39:889-95. 2007
    ..Members of this interactome represent candidate genes for LCA and other ciliopathies. Our findings emphasize the emerging role of disrupted ciliary processes in the molecular pathogenesis of LCA...