U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from Gene

Autosomal dominant auditory neuropathy 1(NSDAN; AUNA1)

MedGen UID:
322984
Concept ID:
C1836743
Disease or Syndrome
Synonym: AUDITORY NEUROPATHY, NONSYNDROMIC DOMINANT
 
Gene (location): DIAPH3 (13q21.2)
 
Monarch Initiative: MONDO:0012196
OMIM®: 609129

Definition

Auditory neuropathy is a type of hearing loss defined by the preservation of cochlear outer hair cell function and abnormal or absent auditory brainstem responses. Auditory neuropathy may accompany peripheral neuropathy in a variety of dominant syndromes such as Charcot-Marie-Tooth disease (Satya-Murti et al., 1979) and has been observed in Friedreich ataxia (Satya-Murti et al., 1980). Auditory neuropathy unassociated with peripheral neuropathy most commonly occurs as a sporadic or recessive trait; see, for example, 601071. Genetic Heterogeneity of Autosomal Dominant Auditory Neuropathy See also AUNA2 (620384), caused by mutation in the ATP11A gene (605868) on chromosome 13q34, and AUNA3 (619832), caused by mutation in the TMEM43 gene (612048) on chromosome 3p25. [from OMIM]

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.
Abnormal speech discrimination
MedGen UID:
322986
Concept ID:
C1836752
Finding
A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss.
Abnormal auditory evoked potentials
MedGen UID:
141758
Concept ID:
C0522216
Finding
An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex.

Recent clinical studies

Etiology

Grati FR, Lesperance MM, De Toffol S, Chinetti S, Selicorni A, Emery S, Grimi B, Dulcetti F, Malvestiti B, Taylor J, Milani S, Ruggeri AM, Maggi F, Simoni G
Am J Med Genet A 2009 May;149A(5):906-13. doi: 10.1002/ajmg.a.32754. PMID: 19353688
Nystad M, Fagerheim T, Brox V, Fortunato EA, Nilssen Ø
Mutat Res 2008 Jan 1;637(1-2):56-65. Epub 2007 Jul 25 doi: 10.1016/j.mrfmmm.2007.07.009. PMID: 17765268Free PMC Article
Kovach MJ, Campbell KC, Herman K, Waggoner B, Gelber D, Hughes LF, Kimonis VE
Am J Med Genet 2002 Apr 1;108(4):295-303. doi: 10.1002/ajmg.10223. PMID: 11920834

Diagnosis

Jang MW, Oh DY, Yi E, Liu X, Ling J, Kim N, Sharma K, Kim TY, Lee S, Kim AR, Kim MY, Kim MA, Lee M, Han JH, Han JJ, Park HR, Kim BJ, Lee SY, Woo DH, Oh J, Oh SJ, Du T, Koo JW, Oh SH, Shin HW, Seong MW, Lee KY, Kim UK, Shin JB, Sang S, Cai X, Mei L, He C, Blanton SH, Chen ZY, Chen H, Liu X, Nourbakhsh A, Huang Z, Kang KW, Park WY, Feng Y, Lee CJ, Choi BY
Proc Natl Acad Sci U S A 2021 Jun 1;118(22) doi: 10.1073/pnas.2019681118. PMID: 34050020Free PMC Article
Wu K, Wang H, Guan J, Lan L, Zhao C, Zhang M, Wang D, Wang Q
Int J Pediatr Otorhinolaryngol 2020 Jun;133:109947. Epub 2020 Feb 13 doi: 10.1016/j.ijporl.2020.109947. PMID: 32087478
Carvalho GM, Ramos PZ, Castilho AM, Guimarães AC, Sartorato EL
Mol Med Rep 2016 Jul;14(1):481-90. Epub 2016 May 9 doi: 10.3892/mmr.2016.5226. PMID: 27177047
Mutai H, Suzuki N, Shimizu A, Torii C, Namba K, Morimoto N, Kudoh J, Kaga K, Kosaki K, Matsunaga T
Orphanet J Rare Dis 2013 Oct 28;8:172. doi: 10.1186/1750-1172-8-172. PMID: 24164807Free PMC Article
Kovach MJ, Campbell KC, Herman K, Waggoner B, Gelber D, Hughes LF, Kimonis VE
Am J Med Genet 2002 Apr 1;108(4):295-303. doi: 10.1002/ajmg.10223. PMID: 11920834

Prognosis

Namba K, Mutai H, Takiguchi Y, Yagi H, Okuyama T, Oba S, Yamagishi R, Kaneko H, Shintani T, Kaga K, Matsunaga T
Otol Neurotol 2016 Apr;37(4):394-402. doi: 10.1097/MAO.0000000000000978. PMID: 26905822
Schoen CJ, Burmeister M, Lesperance MM
PLoS One 2013;8(2):e56520. Epub 2013 Feb 18 doi: 10.1371/journal.pone.0056520. PMID: 23441200Free PMC Article
Kovach MJ, Campbell KC, Herman K, Waggoner B, Gelber D, Hughes LF, Kimonis VE
Am J Med Genet 2002 Apr 1;108(4):295-303. doi: 10.1002/ajmg.10223. PMID: 11920834

Clinical prediction guides

Gilels FA, Wang J, Bullen A, White PM, Kiernan AE
Cell Death Dis 2022 Nov 18;13(11):971. doi: 10.1038/s41419-022-05380-w. PMID: 36400760Free PMC Article
Wu K, Wang H, Guan J, Lan L, Zhao C, Zhang M, Wang D, Wang Q
Int J Pediatr Otorhinolaryngol 2020 Jun;133:109947. Epub 2020 Feb 13 doi: 10.1016/j.ijporl.2020.109947. PMID: 32087478
Namba K, Mutai H, Takiguchi Y, Yagi H, Okuyama T, Oba S, Yamagishi R, Kaneko H, Shintani T, Kaga K, Matsunaga T
Otol Neurotol 2016 Apr;37(4):394-402. doi: 10.1097/MAO.0000000000000978. PMID: 26905822
Schoen CJ, Burmeister M, Lesperance MM
PLoS One 2013;8(2):e56520. Epub 2013 Feb 18 doi: 10.1371/journal.pone.0056520. PMID: 23441200Free PMC Article
Kovach MJ, Campbell KC, Herman K, Waggoner B, Gelber D, Hughes LF, Kimonis VE
Am J Med Genet 2002 Apr 1;108(4):295-303. doi: 10.1002/ajmg.10223. PMID: 11920834

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...