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Hearing loss, autosomal dominant 82(DFNA82)

MedGen UID:
1803416
•Concept ID:
C5676948
•
Disease or Syndrome
Synonym: Deafness, autosomal dominant 82
 
Gene (location): ATP2B2 (3p25.3)
 
Monarch Initiative: MONDO:0030719
OMIM®: 619804

Definition

Autosomal dominant deafness-82 (DFNA82) is characterized by onset of rapidly progressive bilateral sensorineural hearing loss usually early in the first decade, although later onset may rarely occur. Affected individuals often pass the newborn screening test before the onset of mild to profound hearing loss (Smits et al., 2019). [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
Tinnitus
MedGen UID:
52760
•Concept ID:
C0040264
•
Disease or Syndrome
Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.
Hiramatsu K, Nishio SY, Kitajiri SI, Kitano T, Moteki H, Usami SI, On Behalf Of The Deafness Gene Study Consortium
Genes (Basel) 2021 Oct 15;12(10) doi: 10.3390/genes12101623. PMID: 34681017Free PMC Article
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.
Furlano M, Martínez V, Pybus M, Arce Y, Crespí J, Venegas MDP, Bullich G, Domingo A, Ayasreh N, Benito S, Lorente L, Ruíz P, Gonzalez VL, Arlandis R, Cabello E, Torres F, Guirado L, Ars E, Torra R
Am J Kidney Dis 2021 Oct;78(4):560-570.e1. Epub 2021 Apr 7 doi: 10.1053/j.ajkd.2021.02.326. PMID: 33838161
Frontometaphyseal dysplasia and keloid formation without FLNA mutations.
Basart H, van de Kar A, Adès L, Cho TJ, Carter E, Maas SM, Wilson LC, van der Horst CM, Wade EM, Robertson SP, Hennekam RC
Am J Med Genet A 2015 Jun;167(6):1215-22. Epub 2015 Apr 21 doi: 10.1002/ajmg.a.37044. PMID: 25899317
Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull 2009 Aug;56(3):105-52. PMID: 19728970
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, Gresele P, Bizzaro N, Malatesta P, Koivisto PA, Longo I, Musso R, Pecoraro C, Iolascon A, Magrini U, Rodriguez Soriano J, Renieri A, Ghiggeri GM, Ravazzolo R, Balduini CL, Savoia A
Medicine (Baltimore) 2003 May;82(3):203-15. doi: 10.1097/01.md.0000076006.64510.5c. PMID: 12792306

Diagnosis

Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.
Hiramatsu K, Nishio SY, Kitajiri SI, Kitano T, Moteki H, Usami SI, On Behalf Of The Deafness Gene Study Consortium
Genes (Basel) 2021 Oct 15;12(10) doi: 10.3390/genes12101623. PMID: 34681017Free PMC Article
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.
Furlano M, Martínez V, Pybus M, Arce Y, Crespí J, Venegas MDP, Bullich G, Domingo A, Ayasreh N, Benito S, Lorente L, Ruíz P, Gonzalez VL, Arlandis R, Cabello E, Torres F, Guirado L, Ars E, Torra R
Am J Kidney Dis 2021 Oct;78(4):560-570.e1. Epub 2021 Apr 7 doi: 10.1053/j.ajkd.2021.02.326. PMID: 33838161
The p.R206C Mutation in MYO7A Leads to Autosomal Dominant Nonsyndromic Hearing Loss.
Lu J, Chen P, Chen T, Li L, Fu X, Yang T, Wu H
ORL J Otorhinolaryngol Relat Spec 2020;82(4):181-187. Epub 2020 May 19 doi: 10.1159/000506208. PMID: 32428919
Late onset and high-frequency dominant hearing loss in a family with MYH9 disorder.
Wasano K, Matsunaga T, Ogawa K, Kunishima S
Eur Arch Otorhinolaryngol 2016 Nov;273(11):3547-3552. Epub 2016 Mar 4 doi: 10.1007/s00405-016-3954-0. PMID: 26942920
Autosomal-dominant, prelingual, nonprogressive sensorineural hearing loss: localization of the gene (DFNA8) to chromosome 11q by linkage in an Austrian family.
Kirschhofer K, Kenyon JB, Hoover DM, Franz P, Weipoltshammer K, Wachtler F, Kimberling WJ
Cytogenet Cell Genet 1998;82(1-2):126-30. doi: 10.1159/000015086. PMID: 9763681

Therapy

Hereditary prolongation of QT interval . Study of two families.
Gale GE, Bosman CK, Tucker RB, Barlow JB
Br Heart J 1970 Jul;32(4):505-9. doi: 10.1136/hrt.32.4.505. PMID: 4393533Free PMC Article

Prognosis

Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.
Savoia A, De Rocco D, Panza E, Bozzi V, Scandellari R, Loffredo G, Mumford A, Heller PG, Noris P, De Groot MR, Giani M, Freddi P, Scognamiglio F, Riondino S, Pujol-Moix N, Fabris F, Seri M, Balduini CL, Pecci A
Thromb Haemost 2010 Apr;103(4):826-32. Epub 2010 Feb 19 doi: 10.1160/TH09-08-0593. PMID: 20174760
Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull 2009 Aug;56(3):105-52. PMID: 19728970
A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism.
Stockley TL, Mendoza-Londono R, Propst EJ, Sodhi S, Dupuis L, Papsin BC
Am J Med Genet A 2009 Mar;149A(3):322-7. doi: 10.1002/ajmg.a.32679. PMID: 19206155

Clinical prediction guides

Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two Individuals.
Yıldırım R, Unal E, Özalkak Ş, Akalın A, Aykut A, Yılmaz N
J Clin Res Pediatr Endocrinol 2024 Mar 11;16(1):76-83. Epub 2023 Oct 17 doi: 10.4274/jcrpe.galenos.2023.2023-5-16. PMID: 37847107Free PMC Article
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.
Furlano M, Martínez V, Pybus M, Arce Y, Crespí J, Venegas MDP, Bullich G, Domingo A, Ayasreh N, Benito S, Lorente L, Ruíz P, Gonzalez VL, Arlandis R, Cabello E, Torres F, Guirado L, Ars E, Torra R
Am J Kidney Dis 2021 Oct;78(4):560-570.e1. Epub 2021 Apr 7 doi: 10.1053/j.ajkd.2021.02.326. PMID: 33838161
OPA1 analysis in an international series of probands with bilateral optic atrophy.
Liskova P, Tesarova M, Dudakova L, Svecova S, Kolarova H, Honzik T, Seto S, Votruba M
Acta Ophthalmol 2017 Jun;95(4):363-369. Epub 2016 Nov 17 doi: 10.1111/aos.13285. PMID: 27860320
DFNA54, a third locus for low-frequency hearing loss.
Gürtler N, Kim Y, Mhatre A, Schlegel C, Mathis A, Lalwani AK
J Mol Med (Berl) 2004 Nov;82(11):775-80. Epub 2004 Oct 13 doi: 10.1007/s00109-004-0597-1. PMID: 15490091
Autosomal-dominant, prelingual, nonprogressive sensorineural hearing loss: localization of the gene (DFNA8) to chromosome 11q by linkage in an Austrian family.
Kirschhofer K, Kenyon JB, Hoover DM, Franz P, Weipoltshammer K, Wachtler F, Kimberling WJ
Cytogenet Cell Genet 1998;82(1-2):126-30. doi: 10.1159/000015086. PMID: 9763681

Recent systematic reviews

Hearing impairment in Stickler syndrome: a systematic review.
Acke FR, Dhooge IJ, Malfait F, De Leenheer EM
Orphanet J Rare Dis 2012 Oct 30;7:84. doi: 10.1186/1750-1172-7-84. PMID: 23110709Free PMC Article

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • 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
    • PubMed (OMIM)
      Related literature resources in PubMed

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