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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.

Recent clinical studies

Etiology

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
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
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
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
Liu X, Xu L
Ann Otol Rhinol Laryngol 1994 Jun;103(6):428-33. doi: 10.1177/000348949410300602. PMID: 8203808

Diagnosis

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
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
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
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
Popkin JS, Polomeno RC
Can Med Assoc J 1974 Nov 16;111(10):1071-6. PMID: 4429933Free PMC Article

Therapy

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
Minárik G, Ferák V, Feráková E, Ficek A, Poláková H, Kádasi L
Gen Physiol Biophys 2003 Dec;22(4):549-56. PMID: 15113126

Prognosis

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

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
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
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
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

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