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Auditory neuropathy, autosomal dominant 3(AUNA3)

MedGen UID:
1805371
•Concept ID:
C5676964
•
Disease or Syndrome
Synonym: AUNA3
 
Gene (location): 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

Recent clinical studies

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: 23441200Free 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

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: 23441200Free PMC Article
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: 17765268Free 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

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    Related information

    • ClinVar
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    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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