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Hereditary hearing loss and deafness

MedGen UID:
65923
Concept ID:
C0236038
Disease or Syndrome
Synonyms: Hereditary hearing disorder; Hereditary hearing loss
SNOMED CT: Congenital hearing disorder (95827002)
 
Genes (locations): MT-CO1; MT-RNR1; MT-TS1; POU3F4 (Xq21.1); PRPS1 (Xq22.3); SMPX (Xp22.12)
Related genes: PJVK, CISD2, MIR96, GRXCR1, SLC26A5, PTPRQ, ILDR1, TPRN, TMIE, MSRB3, SLC17A8, LHFPL5, LRTOMT, STRC, MARVELD2, CCDC50, SIX5, OTOA, GIPC3, LOXHD1, USH1G, TMC1, MGME1, ATPAF2, ESPN, GRHL2, MYH14, PCDH15, TMPRSS3, CDH23, TWNK, DIABLO, TMEM70, MYO3A, DCDC2, MYO15A, RRM2B, GPSM2, FBXL4, WHRN, CLDN14, P2RX2, TRIOBP, GJB6, CIB2, LRPPRC, USH1C, RIPOR2, OTOF, S1PR2, KCNQ4, SUCLA2, SUCLG1, CDC14A, CLPP, PDHX, WFS1, CLRN1, TFAM, TECTA, SURF1, SOX10, SIX1, SDHA, SCN4A, REST, RDX, POU4F3, SERPINB6, SLC26A4, PDHB, PDHA1, PC, PAX3, NF2, NDUFS4, MYO7A, MYO6, MYH9, TRNY, TRNW, TRNV, TRNT, TRNS2, TRNR, TRNQ, TRNN, TRNM, TRNL2, TRNL1, TRNK, TRNH, TRNF, TRND, TRNA, ND6, ND5, ND4, ND1, TRNC, ATP6, MPV17, MITF, LMX1A, KCNQ1, KCNJ10, KCNE1, KARS1, HGF, HARS1, GJB3, GJB2, GAB1, FOXI1, EYA1, ESRRB, EYA4, EDNRB, EDN3, DLD, DLAT, DIAPH1, DGUOK, COCH, GSDME, TIMM8A, COL11A2, COL11A1, COL9A2, COL9A1, COL4A5, COL4A4, COL4A3, COL2A1, BTD, BCS1L, ATP5F1E, ATP2B2, ADCY1, ACTG1

Definition

Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. In contrast, syndromic hearing loss occurs with signs and symptoms affecting other parts of the body.

Nonsyndromic hearing loss can be classified in several different ways. One common way is by the condition's pattern of inheritance: autosomal dominant (DFNA), autosomal recessive (DFNB), X-linked (DFNX), or mitochondrial (which does not have a special designation). Each of these types of hearing loss includes multiple subtypes. DFNA, DFNB, and DFNX subtypes are numbered in the order in which they were first described. For example, DFNA1 was the first type of autosomal dominant nonsyndromic hearing loss to be identified.

The characteristics of nonsyndromic hearing loss vary among the different types. Hearing loss can affect one ear (unilateral) or both ears (bilateral). Degrees of hearing loss range from mild (difficulty understanding soft speech) to profound (inability to hear even very loud noises). The term "deafness" is often used to describe severe-to-profound hearing loss. Hearing loss can be stable, or it may be progressive, becoming more severe as a person gets older. Particular types of nonsyndromic hearing loss show distinctive patterns of hearing loss. For example, the loss may be more pronounced at high, middle, or low tones.

Most forms of nonsyndromic hearing loss are described as sensorineural, which means they are associated with a permanent loss of hearing caused by damage to structures in the inner ear. The inner ear processes sound and sends the information to the brain in the form of electrical nerve impulses. Less commonly, nonsyndromic hearing loss is described as conductive, meaning it results from changes in the middle ear. The middle ear contains three tiny bones that help transfer sound from the eardrum to the inner ear. Some forms of nonsyndromic hearing loss, particularly a type called DFNX2, involve changes in both the inner ear and the middle ear. This combination is called mixed hearing loss.

Depending on the type, nonsyndromic hearing loss can become apparent at any time from infancy to old age. Hearing loss that is present before a child learns to speak is classified as prelingual or congenital. Hearing loss that occurs after the development of speech is classified as postlingual. [from MedlinePlus Genetics]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Soh Z, Richards AJ, McNinch A, Alexander P, Martin H, Snead MP
Genes (Basel) 2022 Jun 18;13(6) doi: 10.3390/genes13061089. PMID: 35741851Free PMC Article
Posukh OL
Hum Genet 2022 Apr;141(3-4):649-663. Epub 2021 Aug 6 doi: 10.1007/s00439-021-02327-7. PMID: 34363095
Naz S
Hum Genet 2022 Apr;141(3-4):633-648. Epub 2021 Jul 25 doi: 10.1007/s00439-021-02320-0. PMID: 34308486
Kashtan CE
Am J Kidney Dis 2021 Feb;77(2):272-279. Epub 2020 Jul 22 doi: 10.1053/j.ajkd.2020.03.026. PMID: 32712016
Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, Kang HP, Mar-Heyming R, Guha S, Moyer K, Lo C, Kenna M, Alexander JJ, Zhang Y, Hirsch Y, Luo M, Cao Y, Wai Choy K, Cheng YF, Avraham KB, Hu X, Garrido G, Moreno-Pelayo MA, Greinwald J, Zhang K, Zeng Y, Brownstein Z, Basel-Salmon L, Davidov B, Frydman M, Weiden T, Nagan N, Willis A, Hemphill SE, Grant AR, Siegert RK, DiStefano MT, Amr SS, Rehm HL, Abou Tayoun AN; ClinGen Hearing Loss Working Group
Genet Med 2019 Nov;21(11):2442-2452. Epub 2019 Jun 4 doi: 10.1038/s41436-019-0535-9. PMID: 31160754Free PMC Article

Diagnosis

Wu J, Cao Z, Su Y, Wang Y, Cai R, Chen J, Gao B, Han M, Li X, Zhang D, Gao X, Huang S, Huang Q, Yuan Y, Ma X, Dai P
J Hum Genet 2022 Nov;67(11):643-649. Epub 2022 Aug 19 doi: 10.1038/s10038-022-01066-5. PMID: 35982127Free PMC Article
Kashtan CE
Am J Kidney Dis 2021 Feb;77(2):272-279. Epub 2020 Jul 22 doi: 10.1053/j.ajkd.2020.03.026. PMID: 32712016
Sheffield AM, Smith RJH
Cold Spring Harb Perspect Med 2019 Sep 3;9(9) doi: 10.1101/cshperspect.a033258. PMID: 30249598Free PMC Article
Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C
Eur J Hum Genet 2016 Dec;24(12):1730-1738. Epub 2016 Jul 27 doi: 10.1038/ejhg.2016.99. PMID: 27460420Free PMC Article
Sloan-Heggen CM, Babanejad M, Beheshtian M, Simpson AC, Booth KT, Ardalani F, Frees KL, Mohseni M, Mozafari R, Mehrjoo Z, Jamali L, Vaziri S, Akhtarkhavari T, Bazazzadegan N, Nikzat N, Arzhangi S, Sabbagh F, Otukesh H, Seifati SM, Khodaei H, Taghdiri M, Meyer NC, Daneshi A, Farhadi M, Kahrizi K, Smith RJ, Azaiez H, Najmabadi H
J Med Genet 2015 Dec;52(12):823-9. Epub 2015 Oct 7 doi: 10.1136/jmedgenet-2015-103389. PMID: 26445815Free PMC Article

Therapy

He YQ, Luo LT, Wang TM, Xue WQ, Yang DW, Li DH, Diao H, Xiao RW, Deng CM, Zhang WL, Liao Y, Wu YX, Wang QL, Zhou T, Li XZ, Zheng XH, Zhang PF, Zhang SD, Hu YZ, Sun Y, Jia WH
Hum Genet 2023 Jun;142(6):759-772. Epub 2023 Apr 16 doi: 10.1007/s00439-023-02554-0. PMID: 37062025Free PMC Article
Robillard KN, de Vrieze E, van Wijk E, Lentz JJ
Hear Res 2022 Dec;426:108523. Epub 2022 May 16 doi: 10.1016/j.heares.2022.108523. PMID: 35649738
Kashtan CE
Am J Kidney Dis 2021 Feb;77(2):272-279. Epub 2020 Jul 22 doi: 10.1053/j.ajkd.2020.03.026. PMID: 32712016
Fu Y, Zha S, Lü N, Xu H, Zhang X, Shi W, Zha J
J Evid Based Med 2019 Feb;12(1):40-50. Epub 2018 Jul 2 doi: 10.1111/jebm.12305. PMID: 29968368
Bitner-Glindzicz M
Br Med Bull 2002;63:73-94. doi: 10.1093/bmb/63.1.73. PMID: 12324385

Prognosis

Zong YJ, Liu XZ, Tu L, Sun Y
Int J Mol Sci 2023 Jun 19;24(12) doi: 10.3390/ijms241210349. PMID: 37373495Free PMC Article
He YQ, Luo LT, Wang TM, Xue WQ, Yang DW, Li DH, Diao H, Xiao RW, Deng CM, Zhang WL, Liao Y, Wu YX, Wang QL, Zhou T, Li XZ, Zheng XH, Zhang PF, Zhang SD, Hu YZ, Sun Y, Jia WH
Hum Genet 2023 Jun;142(6):759-772. Epub 2023 Apr 16 doi: 10.1007/s00439-023-02554-0. PMID: 37062025Free PMC Article
Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C
Eur J Hum Genet 2016 Dec;24(12):1730-1738. Epub 2016 Jul 27 doi: 10.1038/ejhg.2016.99. PMID: 27460420Free PMC Article
Lenz DR, Avraham KB
Hear Res 2011 Nov;281(1-2):3-10. Epub 2011 Jun 6 doi: 10.1016/j.heares.2011.05.021. PMID: 21664957
Nance WE
Ment Retard Dev Disabil Res Rev 2003;9(2):109-19. doi: 10.1002/mrdd.10067. PMID: 12784229

Clinical prediction guides

Zong YJ, Liu XZ, Tu L, Sun Y
Int J Mol Sci 2023 Jun 19;24(12) doi: 10.3390/ijms241210349. PMID: 37373495Free PMC Article
He YQ, Luo LT, Wang TM, Xue WQ, Yang DW, Li DH, Diao H, Xiao RW, Deng CM, Zhang WL, Liao Y, Wu YX, Wang QL, Zhou T, Li XZ, Zheng XH, Zhang PF, Zhang SD, Hu YZ, Sun Y, Jia WH
Hum Genet 2023 Jun;142(6):759-772. Epub 2023 Apr 16 doi: 10.1007/s00439-023-02554-0. PMID: 37062025Free PMC Article
Romano DR, Hashino E, Nelson RF
Hum Genet 2022 Apr;141(3-4):347-362. Epub 2021 Aug 3 doi: 10.1007/s00439-021-02325-9. PMID: 34342719Free PMC Article
Al Mutery A, Mahfood M, Chouchen J, Tlili A
Hum Genet 2022 Apr;141(3-4):595-605. Epub 2021 Aug 2 doi: 10.1007/s00439-021-02323-x. PMID: 34338889
Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C
Eur J Hum Genet 2016 Dec;24(12):1730-1738. Epub 2016 Jul 27 doi: 10.1038/ejhg.2016.99. PMID: 27460420Free PMC Article

Recent systematic reviews

Han JH, Cancellieri F, Perea-Romero I, Ayuso C, Quinodoz M, Rivolta C
Ophthalmic Res 2024;67(1):107-114. Epub 2023 Nov 28 doi: 10.1159/000535545. PMID: 38016437
de Muijnck C, Brink JBT, Bergen AA, Boon CJF, van Genderen MM
Surv Ophthalmol 2023 Jul-Aug;68(4):641-654. Epub 2023 Feb 9 doi: 10.1016/j.survophthal.2023.01.012. PMID: 36764396
Sidenna M, Fadl T, Zayed H
Otol Neurotol 2020 Feb;41(2):e152-e162. doi: 10.1097/MAO.0000000000002489. PMID: 31860473
Yu G, Yu ML, Wang JF, Gao CR, Chen ZJ
Endocrine 2010 Oct;38(2):147-52. Epub 2010 Oct 23 doi: 10.1007/s12020-010-9350-4. PMID: 20972738

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2023
      UK NICE Guideline (NG98), Hearing loss in adults: assessment and management, 2023
    • NICE, 2019
      Cochlear implants for children and adults with severe to profound deafness (2019 Update)
    • ACMG ACT Sheet, 2018
      Newborn Screening ACT Sheet (Congenital Hearing Loss >30db)
    • ACMG ACT Sheet, 2010
      American College of Medical Genetics ACT SHEET, Congenital Hearing Loss, 2010
    • ACMG Algorithm, 2009
      American College of Medical Genetics Algorithm, Hearing Loss, 2009
    • NICE, 2009
      National Institute for Health and Clinical Excellence, Cochlear implants for children and adults with severe to profound deafness, 2009 [See 2019 Update, TA566]
    • ACMG Algorithm, 2009
      American College of Medical Genetics ACT SHEET, Newborn Screening ACT Sheet Algorithm, Congenital Hearing Loss, 2009

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