U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Autosomal recessive nonsyndromic hearing loss 9(DFNB9; NSRD9; AUNB1)

MedGen UID:
331376
Concept ID:
C1832828
Disease or Syndrome
Synonyms: AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, TEMPERATURE-SENSITIVE; Deafness, autosomal recessive 9; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9; OTOF-Related Deafness
 
Gene (location): OTOF (2p23.3)
 
Monarch Initiative: MONDO:0010986
OMIM®: 601071

Definition

OTOF-related deafness is characterized by two phenotypes: prelingual nonsyndromic auditory neuropathy spectrum disorder (ANSD) and, less frequently, temperature-sensitive auditory neuropathy spectrum disorder (TS-ANSD). OTOF-related ANSD is characterized by congenital or prelingual, typically severe-to-profound bilateral deafness without inner-ear anomalies on MRI or CT examination of the temporal bones. Otoacoustic emissions (OAEs) are present and auditory brain stem response is abnormal at birth. Newborn hearing screening testing of OAEs only will fail to detect this disorder in most individuals. OAEs may decrease or disappear with age in 20%-80% of individuals. TS-ANSD typically presents with normal-to-moderate hearing loss (0-55 dB) at baseline body temperature. An elevation of body temperature (approximately 0.5°C or more) triggers significant bilateral hearing loss ranging from severe to profound, with resolution of hearing loss typically occurring within hours of a return to baseline body temperature. [from GeneReviews]

Clinical features

From HPO
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Absence of acoustic reflex
MedGen UID:
322049
Concept ID:
C1832834
Finding
Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli.
Absent brainstem auditory responses
MedGen UID:
322983
Concept ID:
C1836742
Finding
Lack of measurable response to stimulation of auditory evoked potentials.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Camunas-Soler J, Lee H, Hudgins L, Hintz SR, Blumenfeld YJ, El-Sayed YY, Quake SR
Clin Chem 2018 Feb;64(2):336-345. Epub 2017 Nov 2 doi: 10.1373/clinchem.2017.278101. PMID: 29097507

Recent clinical studies

Etiology

Riza AL, Alkhzouz C, Farcaș M, Pîrvu A, Miclea D, Mihuț G, Pleșea RM, Ștefan D, Drodar M, Lazăr C, On Behalf Of The Hint Study, On Behalf Of The Fuse Study, Ioana M, Popp R
Genes (Basel) 2022 Dec 26;14(1) doi: 10.3390/genes14010069. PMID: 36672810Free PMC Article
Mosrati MA, Fadhlaoui-Zid K, Benammar-Elgaaied A, Gibriel AA, Ben Said M, Masmoudi S
Mol Genet Genomic Med 2021 Oct;9(10):e1810. Epub 2021 Sep 13 doi: 10.1002/mgg3.1810. PMID: 34514748Free PMC Article
Bitarafan F, Seyedena SY, Mahmoudi M, Garshasbi M
J Clin Lab Anal 2020 Dec;34(12):e23544. Epub 2020 Aug 30 doi: 10.1002/jcla.23544. PMID: 32864763Free PMC Article
Kim SY, Kim AR, Han KH, Kim MY, Jeon EH, Koo JW, Oh SH, Choi BY
PLoS One 2015;10(6):e0125416. Epub 2015 Jun 10 doi: 10.1371/journal.pone.0125416. PMID: 26061264Free PMC Article
Park HJ, Hahn SH, Chun YM, Park K, Kim HN
Laryngoscope 2000 Sep;110(9):1535-8. doi: 10.1097/00005537-200009000-00023. PMID: 10983956

Diagnosis

Riza AL, Alkhzouz C, Farcaș M, Pîrvu A, Miclea D, Mihuț G, Pleșea RM, Ștefan D, Drodar M, Lazăr C, On Behalf Of The Hint Study, On Behalf Of The Fuse Study, Ioana M, Popp R
Genes (Basel) 2022 Dec 26;14(1) doi: 10.3390/genes14010069. PMID: 36672810Free PMC Article
Mosrati MA, Fadhlaoui-Zid K, Benammar-Elgaaied A, Gibriel AA, Ben Said M, Masmoudi S
Mol Genet Genomic Med 2021 Oct;9(10):e1810. Epub 2021 Sep 13 doi: 10.1002/mgg3.1810. PMID: 34514748Free PMC Article
Van Heurck R, Carminho-Rodrigues MT, Ranza E, Stafuzza C, Quteineh L, Gehrig C, Hammar E, Guipponi M, Abramowicz M, Senn P, Guinand N, Cao-Van H, Paoloni-Giacobino A
Genes (Basel) 2021 Aug 20;12(8) doi: 10.3390/genes12081277. PMID: 34440452Free PMC Article
Bitarafan F, Seyedena SY, Mahmoudi M, Garshasbi M
J Clin Lab Anal 2020 Dec;34(12):e23544. Epub 2020 Aug 30 doi: 10.1002/jcla.23544. PMID: 32864763Free PMC Article
Sineni CJ, Yildirim-Baylan M, Guo S, Camarena V, Wang G, Tokgoz-Yilmaz S, Duman D, Bademci G, Tekin M
Hum Genet 2019 Oct;138(10):1071-1075. Epub 2019 Jun 7 doi: 10.1007/s00439-019-02037-1. PMID: 31175426Free PMC Article

Therapy

García-García G, Berzal-Serrano A, García-Díaz P, Villanova-Aparisi R, Juárez-Rodríguez S, de Paula-Vernetta C, Cavallé-Garrido L, Jaijo T, Armengot-Carceller M, Millán JM, Aller E
Genes (Basel) 2020 Dec 7;11(12) doi: 10.3390/genes11121467. PMID: 33297549Free PMC Article
Bademci G, Diaz-Horta O, Guo S, Duman D, Van Booven D, Foster J 2nd, Cengiz FB, Blanton S, Tekin M
Genet Test Mol Biomarkers 2014 Sep;18(9):658-61. Epub 2014 Jul 25 doi: 10.1089/gtmb.2014.0121. PMID: 25062256Free PMC Article

Prognosis

Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY
BMC Med Genomics 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. PMID: 37041640Free PMC Article
Sineni CJ, Yildirim-Baylan M, Guo S, Camarena V, Wang G, Tokgoz-Yilmaz S, Duman D, Bademci G, Tekin M
Hum Genet 2019 Oct;138(10):1071-1075. Epub 2019 Jun 7 doi: 10.1007/s00439-019-02037-1. PMID: 31175426Free PMC Article
Kim SY, Kim AR, Han KH, Kim MY, Jeon EH, Koo JW, Oh SH, Choi BY
PLoS One 2015;10(6):e0125416. Epub 2015 Jun 10 doi: 10.1371/journal.pone.0125416. PMID: 26061264Free PMC Article
Li Y, Pohl E, Boulouiz R, Schraders M, Nürnberg G, Charif M, Admiraal RJ, von Ameln S, Baessmann I, Kandil M, Veltman JA, Nürnberg P, Kubisch C, Barakat A, Kremer H, Wollnik B
Am J Hum Genet 2010 Mar 12;86(3):479-84. Epub 2010 Feb 18 doi: 10.1016/j.ajhg.2010.02.003. PMID: 20170898Free PMC Article
Longo-Guess CM, Gagnon LH, Fritzsch B, Johnson KR
Mamm Genome 2007 Sep;18(9):646-56. Epub 2007 Sep 18 doi: 10.1007/s00335-007-9049-x. PMID: 17876667Free PMC Article

Clinical prediction guides

Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY
BMC Med Genomics 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. PMID: 37041640Free PMC Article
Sineni CJ, Yildirim-Baylan M, Guo S, Camarena V, Wang G, Tokgoz-Yilmaz S, Duman D, Bademci G, Tekin M
Hum Genet 2019 Oct;138(10):1071-1075. Epub 2019 Jun 7 doi: 10.1007/s00439-019-02037-1. PMID: 31175426Free PMC Article
Chakchouk I, Zhang D, Zhang Z, Francioli LC, Santos-Cortez RLP, Schrauwen I, Leal SM
Eur J Hum Genet 2019 Sep;27(9):1456-1465. Epub 2019 May 3 doi: 10.1038/s41431-019-0417-2. PMID: 31053783Free PMC Article
Kim SY, Kim AR, Han KH, Kim MY, Jeon EH, Koo JW, Oh SH, Choi BY
PLoS One 2015;10(6):e0125416. Epub 2015 Jun 10 doi: 10.1371/journal.pone.0125416. PMID: 26061264Free PMC Article
Scott DA, Carmi R, Elbedour K, Yosefsberg S, Stone EM, Sheffield VC
Am J Hum Genet 1996 Aug;59(2):385-91. PMID: 8755925Free PMC Article

Recent systematic reviews

Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY
BMC Med Genomics 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. PMID: 37041640Free PMC Article

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.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...