G Van Camp

Summary

Affiliation: University of Antwerp
Country: Belgium

Publications

  1. ncbi The gene for human gap junction protein connexin37 (GJA4) maps to chromosome 1p35.1, in the vicinity of D1S195
    G Van Camp
    Department of Medical Genetics, University of Antwerp, Belgium
    Genomics 30:402-3. 1995
  2. pmc A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36
    K Van Den Bogaert
    Department of Medical Genetics, University of Antwerp, Wilrijk, Belgium
    Am J Hum Genet 68:495-500. 2001
  3. doi Involvement of T-cell receptor-beta alterations in the development of otosclerosis linked to OTSC2
    I Schrauwen
    Department of Medical Genetics, University of Antwerp, Belgium
    Genes Immun 11:246-53. 2010
  4. ncbi Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region
    P Van Hauwe
    Department of Medical Genetics, University of Antwerp, Belgium
    Am J Med Genet 93:184-7. 2000
  5. ncbi CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1
    E Fransen
    Department of Medical Genetics, University of Antwerp, Belgium
    Eur J Hum Genet 3:273-84. 1995
  6. ncbi Refined mapping of a gene for autosomal dominant progressive sensorineural hearing loss (DFNA5) to a 2-cM region, and exclusion of a candidate gene that is expressed in the cochlea
    L Van Laer
    Department of Medical Genetics, University of Antwerp, Belgium
    Eur J Hum Genet 5:397-405. 1997
  7. ncbi Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families
    P J Coucke
    Department of Medical Genetics, University of Antwerp UIA, Universiteitsplein 1, 2610 Antwerp, Belgium
    Hum Mol Genet 8:1321-8. 1999
  8. pmc Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21
    W Van Hul
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Am J Hum Genet 62:391-9. 1998
  9. ncbi L1-associated diseases: clinical geneticists divide, molecular geneticists unite
    E Fransen
    Department of Medical Genetics, University of Antwerp, Belgium
    Hum Mol Genet 6:1625-32. 1997
  10. ncbi MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM
    L Vits
    Department of Medical Genetics, University of Antwerp, Belgium
    Nat Genet 7:408-13. 1994

Collaborators

Detail Information

Publications61

  1. ncbi The gene for human gap junction protein connexin37 (GJA4) maps to chromosome 1p35.1, in the vicinity of D1S195
    G Van Camp
    Department of Medical Genetics, University of Antwerp, Belgium
    Genomics 30:402-3. 1995
  2. pmc A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36
    K Van Den Bogaert
    Department of Medical Genetics, University of Antwerp, Wilrijk, Belgium
    Am J Hum Genet 68:495-500. 2001
    ..54. Analysis of key recombinant individuals maps this otosclerosis locus (OTSC2) to a 16-cM interval on chromosome 7q34-36 between markers D7S495 and D7S2426...
  3. doi Involvement of T-cell receptor-beta alterations in the development of otosclerosis linked to OTSC2
    I Schrauwen
    Department of Medical Genetics, University of Antwerp, Belgium
    Genes Immun 11:246-53. 2010
    ..These data implicate the TRB locus as the causative gene in the OTSC2 region and represent an important finding in the elucidation of the disease pathology...
  4. ncbi Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region
    P Van Hauwe
    Department of Medical Genetics, University of Antwerp, Belgium
    Am J Med Genet 93:184-7. 2000
    ..The clustering of mutations in this domain confirms its importance...
  5. ncbi CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1
    E Fransen
    Department of Medical Genetics, University of Antwerp, Belgium
    Eur J Hum Genet 3:273-84. 1995
    ..Therefore, we propose here to refer to this clinical syndrome with the acronym CRASH, for Corpus callosum hypoplasia, Retardation, Adducted thumbs, Spastic paraplegia and Hydrocephalus...
  6. ncbi Refined mapping of a gene for autosomal dominant progressive sensorineural hearing loss (DFNA5) to a 2-cM region, and exclusion of a candidate gene that is expressed in the cochlea
    L Van Laer
    Department of Medical Genetics, University of Antwerp, Belgium
    Eur J Hum Genet 5:397-405. 1997
    ..The complete cDNA sequence of CG1, encoding a 423 amino acid protein of unknown function, was determined. Mutation analysis of the CG1 gene in DFNA5 patients, however, could not reveal a disease-causing mutation...
  7. ncbi Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families
    P J Coucke
    Department of Medical Genetics, University of Antwerp UIA, Universiteitsplein 1, 2610 Antwerp, Belgium
    Hum Mol Genet 8:1321-8. 1999
    ....
  8. pmc Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21
    W Van Hul
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Am J Hum Genet 62:391-9. 1998
    ..Unraveling the underlying mechanism for this disorder could contribute to the understanding of the regulatory processes conditioning bone density and the underlying pathological processes...
  9. ncbi L1-associated diseases: clinical geneticists divide, molecular geneticists unite
    E Fransen
    Department of Medical Genetics, University of Antwerp, Belgium
    Hum Mol Genet 6:1625-32. 1997
    ..The main clinical features of this spectrum are Corpus callosum hypoplasia, mental Retardation, Adducted thumbs, Spastic paraplegia and Hydrocephalus, which has led to the acronym CRASH syndrome...
  10. ncbi MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM
    L Vits
    Department of Medical Genetics, University of Antwerp, Belgium
    Nat Genet 7:408-13. 1994
    ..L1CAM, therefore, harbours mutations leading to either MASA syndrome or HSAS, and might be frequently implicated in X-linked mental retardation with or without hydrocephalus...
  11. ncbi High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene
    E Fransen
    Department of Medical Genetics, University of Antwerp UIA, Universiteitsplein 1, B 2610 Antwerp, Belgium
    Hum Mol Genet 8:1425-9. 1999
    ..The COCH gene may be one of the genetic factors contributing to Menière's disease and the possibility of a COCH mutation should be considered in patients with Menière's disease symptoms...
  12. ncbi A new, easy, and rapid high-throughput detection method for the common GJB2 (CX26), 35delG mutation
    E Van Eyken
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Genet Test 11:231-4. 2007
    ..We believe that this genetic test for 35delG will find widespread applications in the DNA diagnostic field...
  13. pmc A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24
    K Verhoeven
    Department of Medical Genetics, University of Antwerp, Belgium
    Am J Hum Genet 60:1168-73. 1997
    ..The critical regions for the recessive deafness locus DFNB2 and the dominant locus DFNA11, which were previously localized to the long arm of chromosome 11, do not overlap with the candidate interval of DFNA12...
  14. ncbi Nonsyndromic hearing impairment is associated with a mutation in DFNA5
    L Van Laer
    Department of Medical Genetics, University of Antwerp UIA, Belgium
    Nat Genet 20:194-7. 1998
    ..The mutation co-segregated with deafness in the family and causes skipping of exon 8, resulting in premature termination of the open reading frame. As no physiological function could be assigned, the gene was designated DFNA5...
  15. ncbi Hereditary otovestibular dysfunction and Ménière's disease in a large Belgian family is caused by a missense mutation in the COCH gene
    M Verstreken
    University Department of Otorhinolaryngology, University of Antwerp, Wilrijkstraat 10, B-2650 Antwerp, Belgium
    Otol Neurotol 22:874-81. 2001
    ..In between, there was a transition period of two to three decades, when deterioration of the cochleovestibular function occurred, with a temporary audiometric and vestibular asymmetry...
  16. ncbi Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p
    G Van Camp
    Department of Medical Genetics, University of Antwerp UIA, Belgium
    Genomics 41:70-4. 1997
    ..These results indicate that DFNA2 is most likely an important gene for autosomal dominant hearing loss...
  17. ncbi Otosclerosis: a genetically heterogeneous disease involving at least three different genes
    K Van Den Bogaert
    Department of Medical Genetics, University of Antwerp UIA, Antwerp, Belgium
    Bone 30:624-30. 2002
    ..These results indicate that, besides OTSC1 and OTSC2, there must be at least one additional otosclerosis locus...
  18. pmc A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus
    G Van Camp
    Department of Medical Genetics, University of Antwerp, Belgium
    J Med Genet 36:532-6. 1999
    ..However, as haplotype analysis indicated that the genetic defect in this family is located in a 5.6 cM candidate region that does not overlap the DFNA6 region, the new locus has been named DFNA14...
  19. pmc Contribution of the N-acetyltransferase 2 polymorphism NAT2*6A to age-related hearing impairment
    E Van Eyken
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    J Med Genet 44:570-8. 2007
    ..The first studies to elucidate these genetic factors were recently performed, resulting in the identification of the first two susceptibility genes for ARHI, NAT2 and KCNQ4...
  20. ncbi KCNQ4: a gene for age-related hearing impairment?
    E Van Eyken
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Hum Mutat 27:1007-16. 2006
    ..Nevertheless, the associated SNPs of both populations were all located in the same 13-kb region in the middle of the KCNQ4 gene...
  21. ncbi Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment
    K Verhoeven
    Department of Medical Genetics, University of Antwerp UIA, Belgium
    Nat Genet 19:60-2. 1998
    ..These findings indicate that mutations in TECTA are responsible for hearing impairment in these families, and implicate a new type of protein in the pathogenesis of hearing impairment...
  22. pmc A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment
    L Van Laer
    Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B 2610 Antwerp, Belgium
    J Med Genet 38:515-8. 2001
    ..For the most remote SNP, we could not detect any association. We conclude that the 35delG mutation is derived from a common, albeit ancient founder...
  23. pmc A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3
    R L Snoeckx
    Department of Medical Genetics, University of Antwerp, Belgium
    J Med Genet 41:11-3. 2004
    ..Non-syndromic hearing loss is the most genetically heterogeneous trait known in humans. To date, 51 loci for autosomal dominant non-syndromic sensorineural hearing loss (NSSHL) have been identified by linkage analysis...
  24. ncbi Two frequent missense mutations in Pendred syndrome
    P Van Hauwe
    Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Wilrijk, Antwerp, Belgium
    Hum Mol Genet 7:1099-104. 1998
    ..In total, one or both of these mutations were found in nine of the 14 families analyzed. The identification of two frequent PDS mutations will facilitate the molecular diagnosis of Pendred syndrome...
  25. doi Detection of rare nonsynonymous variants in TGFB1 in otosclerosis patients
    M Thys
    Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, Antwerp, Belgium
    Ann Hum Genet 73:171-5. 2009
    ..Taking into account that most rare missense alleles are thought to have a biological effect, the data suggest that multiple rare amino acid changing variants in TGF-beta1 may contribute to susceptibility to otosclerosis...
  26. ncbi Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES
    E De Baere
    Department of Medical Genetics, Ghent University Hospital, Ghent, B 9000, Belgium
    Genomics 68:296-304. 2000
    ..These data make it unlikely that BPESC1 plays a major role in the pathogenesis of BPES...
  27. pmc A genotype-phenotype correlation for GJB2 (connexin 26) deafness
    K Cryns
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    J Med Genet 41:147-54. 2004
    ..Mutations in GJB2 are the most common cause of non-syndromic autosomal recessive hearing impairment, ranging from mild to profound. Mutation analysis of this gene is widely available as a genetic diagnostic test...
  28. doi Inherited mitochondrial variants are not a major cause of age-related hearing impairment in the European population
    S Bonneux
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Mitochondrion 11:729-34. 2011
    ..We also tested the influence of rare variants on ARHI. None of these tests showed any association with ARHI...
  29. ncbi The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q
    P Coucke
    Department of Medical Genetics, University of Antwerp UIA, Belgium
    Genomics 40:48-54. 1997
    ..26 for marker D7S501. In combination with previous reports, our results define a candidate region for the Pendred gene of 1.7 cM flanked by markers D7S501 and D7S692...
  30. ncbi L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns
    E Fransen
    Department of Medical Genetics, University of Antwerp, B 2610 Antwerp, Belgium
    Hum Mol Genet 7:999-1009. 1998
    ..Additionally, the cerebellar vermis of the KO mice is hypoplastic. Their exploratory behavior is characterized by stereotype peripheral circling reminiscent of that of rodents with induced cerebellar lesions...
  31. pmc A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family
    N Hilgert
    Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B 2610 Antwerp, Belgium
    J Med Genet 46:272-6. 2009
    ..USH2C is characterised by moderate to severe hearing loss, retinitis pigmentosa and normal vestibular function. One earlier report describes mutations in GPR98 (VLGR1) in four families segregating this phenotype...
  32. ncbi Maternally inherited hearing impairment
    G Van Camp
    Department of Medical Genetics, University of Antwerp, Belgium
    Clin Genet 57:409-14. 2000
    ..However, why these five mutations preferentially affect the inner ear, despite the crucial role of mitochondria in nearly all cells of the body, is unknown...
  33. pmc DFNA5: hearing impairment exon instead of hearing impairment gene?
    L Van Laer
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    J Med Genet 41:401-6. 2004
    ..We hypothesise that this represents a very specific "gain of function" mutation, with the truncated protein exerting a deleterious new function...
  34. ncbi Physical mapping of the HOXA1 gene and the hnRPA2B1 gene in a YAC contig from human chromosome 7p14-p15
    L Van Laer
    Department of Medical Genetics, University of Antwerp, Belgium
    Hum Genet 99:831-3. 1997
    ..In this report, we constructed a YAC contig from chromosome 7p14-p15, between markers D7S2496 and D7S1838, and determined the position of the HOXA1 gene and the hnRPA2B1 gene in this YAC contig...
  35. pmc Nonsyndromic hearing impairment: unparalleled heterogeneity
    G Van Camp
    Department of Medical Genetics, University of Antwerp, Belgium
    Am J Hum Genet 60:758-64. 1997
  36. ncbi The complexity of age-related hearing impairment: contributing environmental and genetic factors
    E Van Eyken
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Audiol Neurootol 12:345-58. 2007
    ..In addition, methods for the identification of contributing genetic factors as well as possible future therapeutic strategies are discussed...
  37. doi 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...
  38. ncbi Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15
    G Van Camp
    Department of Medical Genetics, University of Antwerp UIA, Belgium
    Hum Mol Genet 4:2159-63. 1995
    ..The gene causing hearing loss in this family was localized to the short arm of chromosome 7, in a 15 cM interval between markers D7S493 and D7S632...
  39. doi Candidate gene association study for noise-induced hearing loss in two independent noise-exposed populations
    A Konings
    Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, Antwerp, Belgium
    Ann Hum Genet 73:215-24. 2009
    ..Our studies suggest that PCDH15 and MYH14 may be NIHL susceptibility genes, but further replication in independent sample sets is mandatory...
  40. ncbi Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families
    P Coucke
    Department of Medical Genetics, University of Antwerp, Belgium
    N Engl J Med 331:425-31. 1994
    ..This is particularly true of the most common hereditary forms of deafness, which occur in the absence of any associated syndrome...
  41. pmc Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11
    N Hilgert
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    Clin Genet 74:223-32. 2008
    ..The analysis of copy number variations in TMC1 as well as DNA sequencing of 15 additional candidate genes did not reveal any proven pathogenic changes, leaving both hypotheses open...
  42. ncbi Reassignment of MYCL1 to human chromosome 1p34.3 by fluorescence in situ hybridization
    F Speleman
    Department of Medical Genetics, University Hospital, Gent, Belgium
    Cytogenet Cell Genet 72:189-90. 1996
    ..3. This new map position is of importance for the establishment of an integrated map for chromosome 1 and the search for disease genes in this region...
  43. doi Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome
    I Schrauwen
    Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium
    Clin Genet 86:282-6. 2014
    ..In conclusion, with the identification of a new mutation in LRP2 associated with a predominant eye phenotype similar to the Stickler syndrome, we have broadened the phenotypic spectrum of LRP2 mutations. ..
  44. ncbi Genetic diagnostics of early childhood hearing loss: better testing with next-generation DNA sequencing
    M Sommen
    University of Antwerp, Department of Medical Genetics, Antwerp, Belgium
    B-ENT . 2013
    ..It is to be expected that these new tests will greatly improve DNA diagnostics in the coming years...
  45. ncbi Molecular diagnosis of neurosensory deafness: the gap between basic research and diagnostic application is increasing
    G Van Camp
    Department of Medical Genetics, University of Antwerp, Belgium
    Acta Otorhinolaryngol Belg 56:337-40. 2002
  46. ncbi X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene
    E Fransen
    Department of Medical Genetics, University of Antwerp UIA, Belgium
    Hum Mol Genet 3:2255-6. 1994
  47. ncbi An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6
    K Fukushima
    Department of Otolaryngology, University of Iowa, Iowa City 52242, USA
    Genome Res 5:305-8. 1995
    ..Although numerous loci are believed to exist, only five have been identified. Using a pooled genomic DNA screening strategy, we have identified a sixth locus, DFNB6, on 3p in the interval bounded by D3S1619 and D3S1766...
  48. ncbi A locus-specific mutation database for the neural cell adhesion molecule L1CAM (Xq28)
    G Van Camp
    Hum Mutat 8:391. 1996
  49. ncbi A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6
    M E O'Neill
    Department of Otolaryngology, University of Iowa, Iowa City 52242, USA
    Hum Mol Genet 5:853-6. 1996
    ..Using an extended American family in which a gene for autosomal dominant late-onset non-syndromic hearing impairment is segregating, we have identified a new locus, DFNA10, on chromosome 6...
  50. ncbi Complementary deoxyribonucleic acid cloning and characterization of a putative human axonemal dynein light chain gene
    K Kastury
    Department of Internal Medicine, Charles R Drew University of Medicine and Science, Los Angeles, California 90059, USA
    J Clin Endocrinol Metab 82:3047-53. 1997
    ..Cloning of the hp28 cDNA and mapping of the intron-exon junctions should now make it possible to test whether a subset of ICS is a consequence of mutations in the human axonemal dynein light chain gene hp28...
  51. ncbi Chromosomal mapping of two members of the human dynein gene family to chromosome regions 7p15 and 11q13 near the deafness loci DFNA 5 and DFNA 11
    K Kastury
    Genomics Corporation, Foster City, CA 94404, USA
    Genomics 44:362-4. 1997
    ..The hypothesis that mutations in some dynein genes are associated with nonsyndromic deafness should now be tested...
  52. ncbi Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss
    D A Scott
    Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City 52242, USA
    Hum Mutat 11:387-94. 1998
    ..We also have developed a single stranded conformational polymorphism (SSCP) assay which covers the entire Cx26 coding region. This assay can be used to screen individuals with nonsyndromic hearing loss for mutations in the CX26 gene...
  53. ncbi Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness
    R J Morell
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    N Engl J Med 339:1500-5. 1998
    ..We assessed the contribution of mutations in GJB2 to the prevalence of the condition among Ashkenazi Jews...
  54. ncbi Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing
    S Kumar
    Department of Genetics, Boys Town National Research Hospital, Omaha, NE 68131, USA
    Genet Test 1:243-51. 1997
    ..These results provide the basis for molecular genetic testing that will help in the clinical evaluation and genetic counseling of members of BOR families...
  55. ncbi Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus
    S Wayne
    Molecular Otolaryngology Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA
    Hum Mol Genet 10:195-200. 2001
    ....
  56. ncbi Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F
    K N Alagramam
    Department of Pediatrics, Rainbow Babies and Children s Hospital, University Hospitals of Cleveland, Case Western Reserve University, Cleveland, OH, USA
    Hum Mol Genet 10:1709-18. 2001
    ..This report shows that protocadherins are essential for maintenance of normal retinal and cochlear function...
  57. pmc A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment
    F J del Castillo
    J Med Genet 42:588-94. 2005
  58. ncbi MYO1F as a candidate gene for nonsyndromic deafness, DFNB15
    A H Chen
    Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospital and Clinics, Iowa City, IA 52242, USA
    Arch Otolaryngol Head Neck Surg 127:921-5. 2001
    ..Given its wide tissue expression, MYO1F might cause syndromic deafness...
  59. ncbi Longitudinal and cross-sectional phenotype analysis in a new, large Dutch DFNA2/KCNQ4 family
    Els M R De Leenheer
    Department of Otorhinolaryngology, University Medical Center St Radboud Nijmegen, The Netherlands
    Ann Otol Rhinol Laryngol 111:267-74. 2002
    ..Persons with this KCNQ4 mutation showed congenital, progressive high-frequency impairment without substantial loss of speech recognition during the first decades of life...
  60. pmc Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3
    W Chen
    Molecular Otolaryngology Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
    J Med Genet 39:473-7. 2002
    ..The defined OTSC3 interval covers the HLA region, consistent with reported associations between HLA-A/HLA-B antigens and otosclerosis...
  61. pmc A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22-24
    K Van Den Bogaert
    J Med Genet 41:450-3. 2004