Research Topics
Genomes and Genes
| Hannie KremerSummaryAffiliation: Radboud University Nijmegen Medical Centre Country: The Netherlands Publications
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Detail Information
Publications
The mitotic spindle protein SPAG5/Astrin connects to the Usher protein network postmitoticallyFerry Fj Kersten
Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
Cilia 1:2. 2012..abstract:..
Usher syndrome: molecular links of pathogenesis, proteins and pathwaysHannie 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...
Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancerRob 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...- Phenotype description of a novel DFNA9/COCH mutation, I109TRobert 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... - Vertical corneal striae in families with autosomal dominant hearing loss: DFNA9/COCHAnne 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... - Cochleovestibular and ocular features in a Dutch DFNA11 familyAnne 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... - Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunctionMargit 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... - Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutationMartijn 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)... - Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87WRobert 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... - Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3Robert 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)... - Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1Anne Martine R de Heer
Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Audiol Neurootol 16:93-105. 2011.... - Vestibular impairment in a Dutch DFNA15 family with an L289F mutation in POU4F3F 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... - MPP1 links the Usher protein network and the Crumbs protein complex in the retinaIlse 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... - 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.... - Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairmentMargit 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... - Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like proteinErwin 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... - Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35Rob 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... - Association of whirlin with Cav1.3 (alpha1D) channels in photoreceptors, defining a novel member of the usher protein networkFerry 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... - MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutationErsan Kalay
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Am J Med Genet A 143:2382-9. 2007.... - Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA bindingRob 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... - Mild and variable audiometric and vestibular features in a third DFNA15 family with a novel mutation in POU4F3Anne 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... - A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlationRutger F Plantinga
Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
J Assoc Res Otolaryngol 7:173-81. 2006.... - Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one familyArjan 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... - Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutationsNicole 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... - Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing lossErsan 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... - 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... - Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1Anne 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... - USH2A mutation analysis in 70 Dutch families with Usher syndrome type IIRonald 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... - Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): an analysis in 74 mutation carriersAnne 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)... - Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairmentMargit 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... - The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1Erwin 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... - 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.... - 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.... - Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairmentMargit 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... - Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3Arjan 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... - Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairmentRob 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... - Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2aRonald J E Pennings
Department of Ophthalmology, University Medical Centre St Radboud, Nijmegen, The Netherlands
Acta Ophthalmol Scand 82:131-9. 2004..However, more elaborate studies, preferably covering longitudinal data, are needed to obtain conclusive evidence... - Development of a genotyping microarray for Usher syndromeFrans 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... - The benign concentric annular macular dystrophy locus maps to 6p12.3-q16Janneke 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)... - Positional cloning of deafness genesHannie 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... - SDHAF2 (PGL2-SDH5) and hereditary head and neck paragangliomaHenricus P M Kunst
Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
Clin Cancer Res 17:247-54. 2011..Here, we present a new branch of the Dutch SDHAF2 (PLG2-SDH5) family... - A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairmentMartijn 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... - BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathyBart 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.... - A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluationAnne 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... - GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutationsErsan 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%... - Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous familyEva 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... - Comparison of 12 reference genes for normalization of gene expression levels in Epstein-Barr virus-transformed lymphoblastoid cell lines and fibroblastsArjan 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... - 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 IIErwin 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... - Molecular diagnosis of hereditary hearing impairmentHannie Kremer
Department of Otorhinolaryngology, University Medical Center Nijmegen, The Netherlands
Adv Otorhinolaryngol 61:11-27. 2002 - The contribution of GJB2 (Connexin 26) 35delG to age-related hearing impairment and noise-induced hearing lossEls 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)... - Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutationsRegie 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... - Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutationsKim 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... - The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairmentLut 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... - A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment familiesFatemeh 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... - 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 - A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cellsTina 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... - Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2Jan 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... - Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunctionNahid G Robertson
Department of Pathology, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
Hum Mol Genet 15:1071-85. 2006.... - Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and connexin 30 (GJB6) mutationsChristel 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... - 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 studyErik 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... - Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment traitJeroen 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...