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Auditory neuropathy, autosomal dominant 2(AUNA2)

MedGen UID:
1841178
•Concept ID:
C5830542
•
Disease or Syndrome
Synonym: AUNA2
 
Gene (location): ATP11A (13q34)
 
Monarch Initiative: MONDO:0957279
OMIM®: 620384

Definition

Autosomal dominant auditory neuropathy-2 (AUNA2) is characterized by postlingual onset of progressive bilateral sensorineural hearing loss in the second decade, leading to profound deafness in the fifth decade. Affected individuals show abnormal auditory brainstem responses (ABR) even before the onset of symptoms. Outer hair cell (OHC) function is preserved initially, but declines with age (Lang-Roth et al., 2017). For a discussion of genetic heterogeneity of autosomal dominant auditory neuropathy, see AUNA1 (609129). [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.
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

Etiology

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
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

Diagnosis

A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2.
Chepurwar S, von Loh SM, Wigger DC, Neef J, Frommolt P, Beutner D, Lang-Roth R, Kubisch C, Strenzke N, Volk AE
Hum Mol Genet 2023 Mar 20;32(7):1083-1089. doi: 10.1093/hmg/ddac267. PMID: 36300302
Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.
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
The genetic basis of auditory neuropathy spectrum disorder (ANSD).
Manchaiah VK, Zhao F, Danesh AA, Duprey R
Int J Pediatr Otorhinolaryngol 2011 Feb;75(2):151-8. Epub 2010 Dec 21 doi: 10.1016/j.ijporl.2010.11.023. PMID: 21176974
Dystrophic epidermolysis bullosa with one dominant and one recessive mutation of the COL7A1 gene in a child with deafness.
Weinel S, Lucky AW, Uitto J, Pfendner EG, Choo D
Pediatr Dermatol 2008 Mar-Apr;25(2):210-4. doi: 10.1111/j.1525-1470.2008.00636.x. PMID: 18429782
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

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
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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