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Review
. 2001 Nov;69(5):923-35.
doi: 10.1086/324122. Epub 2001 Sep 27.

At the speed of sound: gene discovery in the auditory system

B L Resendes  1 , R E Williamson, C C Morton
Affiliations
Review

At the speed of sound: gene discovery in the auditory system

B L Resendes et al. Am J Hum Genet. 2001 Nov.

Abstract

As auditory genes and deafness-associated mutations are discovered at a rapid rate, exciting opportunities have arisen to uncover the molecular mechanisms underlying hearing and hearing impairment. Single genes have been identified to be pathogenic for dominant or recessive forms of nonsyndromic hearing loss, syndromic hearing loss, and, in some cases, even multiple forms of hearing loss. Modifier loci and genes have been found, and investigations into their role in the hearing process will yield valuable insight into the fundamental processes of the auditory system.

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Figures

Figure 1
Figure 1
Timeline indicating the years in which genes were identified as causing deafness. Genes are listed in chronological order within the year in which mutations were first identified as causing nonsyndromic (red), syndromic (blue), or mitochondrial (green) deafness. An asterisk (*) indicates that mutations in a particular gene cause multiple forms of deafness in that classification (for example, MYO7A, which is colored red and has an asterisk, causes both dominant and recessive nonsyndromic deafness). See table 1 for disorders associated with each gene.
Figure 2
Figure 2
Classification of etiologies of deafness. Some examples of environmental causes of deafness and of more-common forms of syndromic deafness disorders are listed.
Figure 3
Figure 3
Cross section of the cochlear duct, showing the major regions found within the cochlea. Selected genes and the regions in which they are expressed are as follows: endolymphatic duct: PDS; hair cells: DIAPH1, POU4F3, MYO6, MYO7A, MYO15, KCNQ4, OTOF, USH1C, MYH9, CDH23, and CLDN14; extracellular matrix: USH2A; Reissner’s membrane: MYH9 and CDH23; spiral ligament: COCH, MYH9, and NDP; spiral limbus: COCH, GJB2, GJB3, GJB6, and ATP6B1 (interdental cells); stria vascularis: NDP, KCNE1 (marginal cells), and KVLQT1 (marginal cells); supporting cells: GJB2, GJB3, and GJB6; and tectorial membrane: TECTA. (Adapted with permission from Steel [1999].)
See this image and copyright information in PMC

References

Electronic-Database Information

    1. Connexins and Deafness Homepage, http://www.iro.es/deafness/
    1. Hereditary Hearing Loss Homepage, http://www.uia.ac.be/dnalab/hhh/
    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for genes: 12S rRNA [MIM 561000], ATP6B1 [MIM 192132], CDH23 [MIM 605516], CLDN14 [MIM 605608], COCH [MIM 603196], COL11A1 [MIM 120280], COL11A2 [MIM 120290], COL1A2 [MIM 120160], COL2A1 [MIM 120140], COL4A3 [MIM 120070], COL4A4 [MIM 120131], COL4A5 [MIM 303630], DDP [MIM 304700], DFNA5 [MIM 600994], DIAPH1 [MIM 602121], EDN3 [MIM 131242], EDNRB [MIM 131244], EYA1 [MIM 601653], EYA4 [MIM 603550], GJB2 [MIM 121011], GJB3 [MIM 603324], GJB6 [MIM 604418], KCNE1 [MIM 176261], KCNQ4 [MIM 603537], KVLQT1 [MIM 192500], MITF [MIM 156845], MYH9 [MIM 160775], MYO15 [MIM 602666], MYO6 [MIM 600970], MYO7A [MIM 276903], NDP [MIM 310600], OTOF [MIM 603681], PAX3 [MIM 193500], PCDH15 [MIM 605514], PDS [MIM 274600], PMP22 [MIM 601097], POU3F4 [MIM 300039], POU4F3 [MIM 602460], SOX10 [MIM 602229], SOX9 [MIM 114290], TCOF1 [MIM 154500], TECTA [MIM 602574], TMPRSS3 [MIM 605511], tRNA-glu [MIM 590025], tRNA-leu [MIM 590050], tRNA-lys [MIM 590060], tRNA-ser [MIM 590080], USH1C [MIM 605242], USH2A [MIM 276901], USH3 [MIM 276902], WFS1 [MIM 606201]; nonsyndromic deafness disorders: DFNA1 [MIM 124900], DFNA2 [MIM 600101], DFNA3 [MIM 601544], DFNA5 [MIM 600994], DFNA8 [MIM 601543], DFNA9 [MIM 601369], DFNA10 [MIM 601316], DFNA11 [MIM 601317], DFNA12 [MIM 601842], DFNA13 [MIM 601868], DFNA15 [MIM 602459], DFNA17 [MIM 603622], DFNA22 [MIM 600970], DFNB1 [MIM 220290], DFNB2 [MIM 600060], DFNB3 [MIM 600316], DFNB4 [MIM 600791], DFNB8 [MIM 601072], DFNB9 [MIM 601071], DFNB10 [MIM 605316], DFNB12 [MIM 601386], DFNB21 [MIM 603629], DFNB29 [MIM 605608], DFN1 [MIM 304700], DFN3 [MIM 304400], sensorineural deafness [MIM 590080]; and syndromic deafness disorders: Alport syndrome [MIM 104200, 203780], BO syndrome [MIM 602588], BOR syndrome [MIM 113650], campomelic dysplasia [MIM 114290], Charcot-Marie-Tooth disease [MIM 118220], diabetes mellitis and deafness [MIM 520000], distal renal tubular acidosis associated with sensorineural deafness [MIM 267300], Fechtner syndrome [MIM 153640] , JLNS1 [MIM 220400], JLNS2 [MIM 220400], maternally inherited diabetes and deafness [MIM 590025], May-Hegglin syndrome [MIM 155100], mitochondrial deafness [12S rRNA ] [MIM 221745], MERRF [MIM 545000], MELAS [MIM 540000], Norrie disease [MIM 310600], osteogenesis imperfecta [MIM 166200], palmoplantar keratoderma and deafness [MIM 590080], Pendred syndrome [MIM 274600], progressive myoclonic epilepsy, ataxia and hearing loss [MIM 590080], STL1 [MIM 108300], STL2 [MIM 604841], Treacher Collins [MIM 154500], USH1B [MIM 276903], USH1C [MIM 605242], USH1D [MIM 601067], USH1F [MIM 605514], USH2A [MIM 276901], USH3 [MIM 276902], Waardenburg syndrome type I [MIM 193500], Waardenburg syndrome type II [MIM 193510], Waardenburg syndrome type III [MIM 148820], Waardenburg syndrome type IV [MIM 277580], and Wolfram syndrome [MIM 606201])
    1. Mouse Genome Informatics (MGI), http://www.informatics.jax.org/ (for ahl [MGI accession number 87972], Atp2b2 [MGI accession number 105368], cdh23 [MGI accession number 1890219], mdfw [MGI accession number 1202391], moth1 [MGI accession number 1346024], Pcdh15 [MGI accession number 1891428], and tub [MGI accession number 98868])

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