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Auditory neuropathy, autosomal dominant 3(AUNA3)

MedGen UID:: 1805371
•Concept ID:: C5676964
•: Disease or Syndrome

Synonym:	AUNA3

Gene (location): Gene(s) directly associated with this condition or phenotype.	TMEM43 (3p25.1)

Monarch Initiative:	MONDO:0859235
OMIM®:	619832

Definition

Autosomal dominant auditory neuropathy-3 (AUNA3) is characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound (Jang et al., 2021). For a discussion of genetic heterogeneity of autosomal dominant auditory neuropathy, see AUNA1 (609129). [from OMIM]

Clinical features

From HPO

Hearing impairment

MedGen UID:: 235586
•Concept ID:: C1384666
•: Disease or Syndrome

A decreased magnitude of the sensory perception of sound.

See: Feature record | Search on this feature

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.

See: Feature record | Search on this feature

Ear malformation
- Abnormal speech discrimination
- Hearing impairment

Recent clinical studies

Etiology

Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort.

Maeda-Katahira A, Nakamura N, Hayashi T, Katagiri S, Shimizu S, Ohde H, Matsunaga T, Kaga K, Nakano T, Kameya S, Matsuura T, Fujinami K, Iwata T, Tsunoda K
Mol Vis 2019;25:559-573. Epub 2019 Oct 5 PMID: 31673222 Free PMC Article

Pure monosomy and pure trisomy of 13q21.2-31.1 consequent to a familial insertional translocation: exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1).

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

Human cytomegalovirus (HCMV) and hearing impairment: infection of fibroblast cells with HCMV induces chromosome breaks at 1q23.3, between loci DFNA7 and DFNA49 -- both involved in dominantly inherited, sensorineural, hearing impairment.

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: 17765268 Free PMC Article

Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature.

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

See all (4)

Diagnosis

Auditory Neuropathy Spectrum Disorder in the White Sutton Syndrome.

Musumano LB, Fancello V, Negossi L, Ballardini E, Bigoni S, Ciorba A
J Int Adv Otol 2023 Jun;19(3):260-262. doi: 10.5152/iao.2023.22877. PMID: 37272646 Free PMC Article

Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort.

Molecular study of patients with auditory neuropathy.

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

Auditory and optic neuropathy in Kjer's disease: case report.

Haaksma-Schaafsma SC, van Dijk P, Dikkers FG
J Laryngol Otol 2012 Mar;126(3):309-12. Epub 2011 Oct 6 doi: 10.1017/S0022215111002696. PMID: 22017926

Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature.

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

See all (5)

Prognosis

Diaphanous homolog 3 (Diap3) overexpression causes progressive hearing loss and inner hair cell defects in a transgenic mouse model of human deafness.

Schoen CJ, Burmeister M, Lesperance MM
PLoS One 2013;8(2):e56520. Epub 2013 Feb 18 doi: 10.1371/journal.pone.0056520. PMID: 23441200 Free PMC Article

Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature.

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

See all (2)

Clinical prediction guides

Diaphanous homolog 3 (Diap3) overexpression causes progressive hearing loss and inner hair cell defects in a transgenic mouse model of human deafness.

Schoen CJ, Burmeister M, Lesperance MM
PLoS One 2013;8(2):e56520. Epub 2013 Feb 18 doi: 10.1371/journal.pone.0056520. PMID: 23441200 Free PMC Article

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: 17765268 Free PMC Article

Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature.

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

See all (3)

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Auditory neuropathy, autosomal dominant 3(AUNA3)

Definition

Clinical features

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

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Table of contents

Genetic Testing Registry

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Molecular resources

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