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Nonsyndromic hearing loss and deafness

MedGen UID:
448018
Concept ID:
CN043648
Disease or Syndrome
Synonyms: Non-syndromic genetic deafness
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
X-linked recessive inheritance (HPO, OMIM, Orphanet)
 
Related genes: PJVK, MIR96, GRXCR1, SLC26A5, PTPRQ, ILDR1, TPRN, TMIE, MSRB3, SLC17A8, LHFPL5, LRTOMT, STRC, MARVELD2, CCDC50, OTOA, GIPC3, LOXHD1, TMC1, ESPN, GRHL2, MYH14, PCDH15, CDH23, DIABLO, MYO3A, DCDC2, MYO15A, GPSM2, WHRN, CLDN14, P2RX2, TRIOBP, GJB6, CIB2, USH1C, OTOF, S1PR2, KCNQ4, CLPP, WFS1, TECTA, SIX1, RDX, POU4F3, POU3F4, SERPINB6, SLC26A4, MYO7A, MYO6, MYO1A, MYH9, TRNS1, RNR1, COX1, KCNJ10, KARS, HGF, GJB3, GJB2, FOXI1, ESRRB, EYA4, DIAPH1, COCH, GSDME, COL11A2, ATP2B2, ADCY1, ACTG1
Orphanet: ORPHA87884

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 GHR]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Han R, Li L, Duan L, Xia Y, Kuyaxi P, Zhao J, Zhao Q, Zhang H, Chen Y
Medicine (Baltimore) 2017 Jun;96(25):e7149. doi: 10.1097/MD.0000000000007149. PMID: 28640090Free PMC Article
Bademci G, Foster J 2nd, Mahdieh N, Bonyadi M, Duman D, Cengiz FB, Menendez I, Diaz-Horta O, Shirkavand A, Zeinali S, Subasioglu A, Tokgoz-Yilmaz S, Huesca-Hernandez F, de la Luz Arenas-Sordo M, Dominguez-Aburto J, Hernandez-Zamora E, Montenegro P, Paredes R, Moreta G, Vinueza R, Villegas F, Mendoza-Benitez S, Guo S, Bozan N, Tos T, Incesulu A, Sennaroglu G, Blanton SH, Ozturkmen-Akay H, Yildirim-Baylan M, Tekin M
Genet Med 2016 Apr;18(4):364-71. Epub 2015 Jul 30 doi: 10.1038/gim.2015.89. PMID: 26226137Free PMC Article
Bosch J, Noubiap JJ, Dandara C, Makubalo N, Wright G, Entfellner JB, Tiffin N, Wonkam A
OMICS 2014 Nov;18(11):705-10. Epub 2014 Aug 27 doi: 10.1089/omi.2014.0063. PMID: 25162826Free PMC Article
Bosch J, Lebeko K, Nziale JJ, Dandara C, Makubalo N, Wonkam A
OMICS 2014 Jul;18(7):481-5. Epub 2014 May 2 doi: 10.1089/omi.2013.0166. PMID: 24785695Free PMC Article
Xin F, Yuan Y, Deng X, Han M, Wang G, Zhao J, Gao X, Liu J, Yu F, Han D, Dai P
J Transl Med 2013 Dec 17;11:312. doi: 10.1186/1479-5876-11-312. PMID: 24341454Free PMC Article

Diagnosis

Bademci G, Foster J 2nd, Mahdieh N, Bonyadi M, Duman D, Cengiz FB, Menendez I, Diaz-Horta O, Shirkavand A, Zeinali S, Subasioglu A, Tokgoz-Yilmaz S, Huesca-Hernandez F, de la Luz Arenas-Sordo M, Dominguez-Aburto J, Hernandez-Zamora E, Montenegro P, Paredes R, Moreta G, Vinueza R, Villegas F, Mendoza-Benitez S, Guo S, Bozan N, Tos T, Incesulu A, Sennaroglu G, Blanton SH, Ozturkmen-Akay H, Yildirim-Baylan M, Tekin M
Genet Med 2016 Apr;18(4):364-71. Epub 2015 Jul 30 doi: 10.1038/gim.2015.89. PMID: 26226137Free PMC Article
Atik T, Onay H, Aykut A, Bademci G, Kirazli T, Tekin M, Ozkinay F
PLoS One 2015;10(11):e0142154. Epub 2015 Nov 11 doi: 10.1371/journal.pone.0142154. PMID: 26561413Free PMC Article
Adhikary B, Ghosh S, Paul S, Bankura B, Pattanayak AK, Biswas S, Maity B, Das M
Gene 2015 Dec 1;573(2):239-45. Epub 2015 Jul 16 doi: 10.1016/j.gene.2015.07.050. PMID: 26188157
Bosch J, Lebeko K, Nziale JJ, Dandara C, Makubalo N, Wonkam A
OMICS 2014 Jul;18(7):481-5. Epub 2014 May 2 doi: 10.1089/omi.2013.0166. PMID: 24785695Free PMC Article
Xin F, Yuan Y, Deng X, Han M, Wang G, Zhao J, Gao X, Liu J, Yu F, Han D, Dai P
J Transl Med 2013 Dec 17;11:312. doi: 10.1186/1479-5876-11-312. PMID: 24341454Free PMC Article

Therapy

Zhang F, Xiao Y, Xu L, Zhang X, Zhang G, Li J, Lv H, Bai X, Wang H
Biomed Res Int 2016;2016:1302914. Epub 2016 May 9 doi: 10.1155/2016/1302914. PMID: 27247933Free PMC Article
Grillo AP, de Oliveira FM, de Carvalho GQ, Medrano RF, da Silva-Costa SM, Sartorato EL, de Oliveira CA
Biomed Res Int 2015;2015:318727. Epub 2015 May 17 doi: 10.1155/2015/318727. PMID: 26075227Free PMC Article
Gutiérrez Cortés N, Pertuiset C, Dumon E, Börlin M, Hebert-Chatelain E, Pierron D, Feldmann D, Jonard L, Marlin S, Letellier T, Rocher C
Hum Mutat 2012 Apr;33(4):681-9. Epub 2012 Feb 14 doi: 10.1002/humu.22023. PMID: 22241583
Lu J, Li Z, Zhu Y, Yang A, Li R, Zheng J, Cai Q, Peng G, Zheng W, Tang X, Chen B, Chen J, Liao Z, Yang L, Li Y, You J, Ding Y, Yu H, Wang J, Sun D, Zhao J, Xue L, Wang J, Guan MX
Mitochondrion 2010 Jun;10(4):380-90. Epub 2010 Jan 25 doi: 10.1016/j.mito.2010.01.007. PMID: 20100600Free PMC Article
Lu J, Qian Y, Li Z, Yang A, Zhu Y, Li R, Yang L, Tang X, Chen B, Ding Y, Li Y, You J, Zheng J, Tao Z, Zhao F, Wang J, Sun D, Zhao J, Meng Y, Guan MX
Mitochondrion 2010 Jan;10(1):69-81. Epub 2009 Oct 8 doi: 10.1016/j.mito.2009.09.007. PMID: 19818876Free PMC Article

Prognosis

Yan D, Kannan-Sundhari A, Vishwanath S, Qing J, Mittal R, Kameswaran M, Liu XZ
Genet Test Mol Biomarkers 2015 Sep;19(9):512-27. Epub 2015 Jul 17 doi: 10.1089/gtmb.2015.0023. PMID: 26186295Free PMC Article
Xing G, Yao J, Wu B, Liu T, Wei Q, Liu C, Lu Y, Chen Z, Zheng H, Yang X, Cao X
Genet Med 2015 Mar;17(3):210-8. Epub 2014 Jul 31 doi: 10.1038/gim.2014.90. PMID: 25077649
Riazuddin S, Belyantseva IA, Giese AP, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Akram J, Tekin M, Riazuddin S, Cook T, Buschbeck EK, Frolenkov GI, Leal SM, Friedman TB, Ahmed ZM
Nat Genet 2012 Nov;44(11):1265-71. Epub 2012 Sep 30 doi: 10.1038/ng.2426. PMID: 23023331Free PMC Article
Rehman AU, Morell RJ, Belyantseva IA, Khan SY, Boger ET, Shahzad M, Ahmed ZM, Riazuddin S, Khan SN, Riazuddin S, Friedman TB
Am J Hum Genet 2010 Mar 12;86(3):378-88. Epub 2010 Feb 18 doi: 10.1016/j.ajhg.2010.01.030. PMID: 20170899Free PMC Article
Doucette L, Merner ND, Cooke S, Ives E, Galutira D, Walsh V, Walsh T, MacLaren L, Cater T, Fernandez B, Green JS, Wilcox ER, Shotland LI, Li XC, Lee M, King MC, Young TL
Eur J Hum Genet 2009 May;17(5):554-64. Epub 2008 Dec 24 doi: 10.1038/ejhg.2008.231. PMID: 19107147Free PMC Article

Clinical prediction guides

Chen WX, Huang Y, Yang XL, Duan B, Lu P, Wang Y, Xu ZM
Int J Pediatr Otorhinolaryngol 2016 May;84:48-51. Epub 2016 Mar 2 doi: 10.1016/j.ijporl.2016.02.024. PMID: 27063752
Nishio SY, Usami S
Ann Otol Rhinol Laryngol 2015 May;124 Suppl 1:49S-60S. Epub 2015 Mar 18 doi: 10.1177/0003489415575059. PMID: 25788563
Xing G, Yao J, Wu B, Liu T, Wei Q, Liu C, Lu Y, Chen Z, Zheng H, Yang X, Cao X
Genet Med 2015 Mar;17(3):210-8. Epub 2014 Jul 31 doi: 10.1038/gim.2014.90. PMID: 25077649
Rehman AU, Santos-Cortez RL, Morell RJ, Drummond MC, Ito T, Lee K, Khan AA, Basra MA, Wasif N, Ayub M, Ali RA, Raza SI; University of Washington Center for Mendelian Genomics., Nickerson DA, Shendure J, Bamshad M, Riazuddin S, Billington N, Khan SN, Friedman PL, Griffith AJ, Ahmad W, Riazuddin S, Leal SM, Friedman TB
Am J Hum Genet 2014 Jan 2;94(1):144-52. doi: 10.1016/j.ajhg.2013.12.004. PMID: 24387994Free PMC Article
Doucette L, Merner ND, Cooke S, Ives E, Galutira D, Walsh V, Walsh T, MacLaren L, Cater T, Fernandez B, Green JS, Wilcox ER, Shotland LI, Li XC, Lee M, King MC, Young TL
Eur J Hum Genet 2009 May;17(5):554-64. Epub 2008 Dec 24 doi: 10.1038/ejhg.2008.231. PMID: 19107147Free PMC Article

Recent systematic reviews

Hoefsloot LH, Roux AF, Bitner-Glindzicz M; contributors to EMQN DFNB1 best practice meeting.
Eur J Hum Genet 2013 Nov;21(11):1325-9. Epub 2013 May 22 doi: 10.1038/ejhg.2013.83. PMID: 23695287Free PMC Article
Koehne PS, Hüseman D, Walch E, Schuelke M, Varon R, Karbasiyan M, Aust G, Obladen M
Pediatr Crit Care Med 2006 May;7(3):270-2. doi: 10.1097/01.PCC.0000216679.47571.DA. PMID: 16575343
Masmoudi S, Tlili A, Majava M, Ghorbel AM, Chardenoux S, Lemainque A, Zina ZB, Moala J, Männikkö M, Weil D, Lathrop M, Ala-Kokko L, Drira M, Petit C, Ayadi H
Eur J Hum Genet 2003 Feb;11(2):185-8. doi: 10.1038/sj.ejhg.5200934. PMID: 12634867

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