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Hearing loss, autosomal dominant 83(DFNA83)

MedGen UID:
1812664
•Concept ID:
C5676951
•
Disease or Syndrome
Synonym: Deafness, autosomal dominant 83
 
Gene (location): MAP1B (5q13.2)
 
Monarch Initiative: MONDO:0030723
OMIM®: 619808

Definition

Autosomal dominant deafness-83 (DFNA83) is characterized by the onset of progressive sensorineural hearing loss at an average age of 24 years. A notable finding is a normal distortion product otoacoustic emissions (DPOAE) test, implicating dysfunction of spiral ganglia neurons rather than outer hair cells as a disease mechanism (Cui et al., 2020). [from OMIM]

Clinical features

From HPO
Bilateral sensorineural hearing impairment
MedGen UID:
96788
•Concept ID:
C0452138
•
Disease or Syndrome
A bilateral form of sensorineural hearing impairment.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

A novel de novo MYH9 mutation in MYH9-related disease: A case report and review of literature.
Ai Q, Zhao L, Yin J, Jiang L, Jin Q, Hu X, Chen S
Medicine (Baltimore) 2020 Jan;99(4):e18887. doi: 10.1097/MD.0000000000018887. PMID: 31977897Free PMC Article
The Hunter-MacDonald syndrome with expanded phenotype including risk of meningioma: an update and review.
Armstrong L, Graham GE, Schimke RN, Collins DL, Kirse DJ, Costello F, Ardinger HH
Am J Med Genet A 2008 Jan 1;146A(1):83-92. doi: 10.1002/ajmg.a.31998. PMID: 17972300
Evaluation of deaf children in a large series in Turkey.
Ozturk O, Silan F, Oghan F, Egeli E, Belli S, Tokmak A, Egeli A, Harputluoglu U, Onder HI, Zafer C
Int J Pediatr Otorhinolaryngol 2005 Mar;69(3):367-73. Epub 2004 Dec 21 doi: 10.1016/j.ijporl.2004.11.001. PMID: 15733596
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
Nonsyndromic hearing loss: an analysis of audiograms.
Liu X, Xu L
Ann Otol Rhinol Laryngol 1994 Jun;103(6):428-33. doi: 10.1177/000348949410300602. PMID: 8203808

Diagnosis

Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways.
Guan J, Li J, Chen G, Shi T, Lan L, Wu X, Zhao C, Wang D, Wang H, Wang Q
Eur J Med Genet 2021 Oct;64(10):104311. Epub 2021 Aug 17 doi: 10.1016/j.ejmg.2021.104311. PMID: 34416374
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients.
Koyanagi Y, Akiyama M, Nishiguchi KM, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, Omodaka K, Abe T, Komori S, Gao D, Hirakata T, Kurata K, Hosono K, Ueno S, Hotta Y, Murakami A, Terasaki H, Wada Y, Nakazawa T, Ishibashi T, Ikeda Y, Kubo M, Sonoda KH
J Med Genet 2019 Oct;56(10):662-670. Epub 2019 Jun 17 doi: 10.1136/jmedgenet-2018-105691. PMID: 31213501
Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease.
Rigoli L, Bramanti P, Di Bella C, De Luca F
Pediatr Res 2018 May;83(5):921-929. Epub 2018 Feb 28 doi: 10.1038/pr.2018.17. PMID: 29774890
Neurofibromatosis 2 in the pediatric population.
Nunes F, MacCollin M
J Child Neurol 2003 Oct;18(10):718-24. doi: 10.1177/08830738030180101301. PMID: 14649556
Stickler's syndrome (hereditary progressive arthro-ophthalmopathy).
Popkin JS, Polomeno RC
Can Med Assoc J 1974 Nov 16;111(10):1071-6. PMID: 4429933Free PMC Article

Therapy

Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype.
Li J, Xu H, Sun J, Tian Y, Liu D, Qin Y, Liu H, Li R, Neng L, Deng X, Xue B, Yu C, Tang W
Biomed Res Int 2021;2021:6624744. Epub 2021 Mar 4 doi: 10.1155/2021/6624744. PMID: 34258273Free PMC Article
High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL).
Minárik G, Ferák V, Feráková E, Ficek A, Poláková H, Kádasi L
Gen Physiol Biophys 2003 Dec;22(4):549-56. PMID: 15113126

Prognosis

Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease.
Rigoli L, Bramanti P, Di Bella C, De Luca F
Pediatr Res 2018 May;83(5):921-929. Epub 2018 Feb 28 doi: 10.1038/pr.2018.17. PMID: 29774890

Clinical prediction guides

Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways.
Guan J, Li J, Chen G, Shi T, Lan L, Wu X, Zhao C, Wang D, Wang H, Wang Q
Eur J Med Genet 2021 Oct;64(10):104311. Epub 2021 Aug 17 doi: 10.1016/j.ejmg.2021.104311. PMID: 34416374
The Hunter-MacDonald syndrome with expanded phenotype including risk of meningioma: an update and review.
Armstrong L, Graham GE, Schimke RN, Collins DL, Kirse DJ, Costello F, Ardinger HH
Am J Med Genet A 2008 Jan 1;146A(1):83-92. doi: 10.1002/ajmg.a.31998. PMID: 17972300
Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.
Sanggaard KM, Rendtorff ND, Kjaer KW, Eiberg H, Johnsen T, Gimsing S, Dyrmose J, Nielsen KO, Lage K, Tranebjaerg L
Eur J Hum Genet 2007 Nov;15(11):1121-31. Epub 2007 Jul 18 doi: 10.1038/sj.ejhg.5201900. PMID: 17637804
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

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PubMed (OMIM)
      Related literature resources in PubMed

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