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Hearing loss, autosomal dominant 88(DFNA88)

MedGen UID:
1840991
Concept ID:
C5830355
Disease or Syndrome
Synonym: Deafness, autosomal dominant 88
 
Gene (location): EPHA10 (1p34.3)
 
Monarch Initiative: MONDO:0859527
OMIM®: 620283

Definition

Autosomal dominant deafness-88 (DFNA88) is characterized by nonsyndromic postlingual progressive severe sensorineural hearing loss with tinnitus (Jiang et al., 2011; Huang et al., 2023). [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.

Professional guidelines

PubMed

Hammi Y, Charfi H, Ferjani M, Sayari T, Mrad R, Gargah T
Tunis Med 2023 Aug-Sep;101(8-9):704-708. PMID: 38445406

Recent clinical studies

Etiology

Hammi Y, Charfi H, Ferjani M, Sayari T, Mrad R, Gargah T
Tunis Med 2023 Aug-Sep;101(8-9):704-708. PMID: 38445406
Balderramo DC, Ricchi BN, Marun SG, Scaliter G, Alonso M
Haematologica 2003 May;88(5):ECR17. PMID: 12745286
Schönberger J, Levy H, Grünig E, Sangwatanaroj S, Fatkin D, MacRae C, Stäcker H, Halpin C, Eavey R, Philbin EF, Katus H, Seidman JG, Seidman CE
Circulation 2000 Apr 18;101(15):1812-8. doi: 10.1161/01.cir.101.15.1812. PMID: 10769282

Diagnosis

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
Hammi Y, Charfi H, Ferjani M, Sayari T, Mrad R, Gargah T
Tunis Med 2023 Aug-Sep;101(8-9):704-708. PMID: 38445406
Brownstein Z, Gulsuner S, Walsh T, Martins FTA, Taiber S, Isakov O, Lee MK, Bordeynik-Cohen M, Birkan M, Chang W, Casadei S, Danial-Farran N, Abu-Rayyan A, Carlson R, Kamal L, Arnthórsson AÖ, Sokolov M, Gilony D, Lipschitz N, Frydman M, Davidov B, Macarov M, Sagi M, Vinkler C, Poran H, Sharony R, Samra N, Zvi N, Baris-Feldman H, Singer A, Handzel O, Hertzano R, Ali-Naffaa D, Ruhrman-Shahar N, Madgar O, Sofrin-Drucker E, Peleg A, Khayat M, Shohat M, Basel-Salmon L, Pras E, Lev D, Wolf M, Steingrimsson E, Shomron N, Kelley MW, Kanaan MN, Allon-Shalev S, King MC, Avraham KB
Clin Genet 2020 Oct;98(4):353-364. Epub 2020 Aug 24 doi: 10.1111/cge.13817. PMID: 33111345Free PMC Article
Cesca F, Bettella E, Polli R, Cama E, Scimemi P, Santarelli R, Murgia A
Int J Pediatr Otorhinolaryngol 2018 Jan;104:88-93. Epub 2017 Oct 31 doi: 10.1016/j.ijporl.2017.10.042. PMID: 29287889
Verver E, Pecci A, De Rocco D, Ryhänen S, Barozzi S, Kunst H, Topsakal V, Savoia A
Clin Genet 2015 Jul;88(1):85-9. Epub 2014 Jul 26 doi: 10.1111/cge.12438. PMID: 24890873

Therapy

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

Prognosis

Cesca F, Bettella E, Polli R, Cama E, Scimemi P, Santarelli R, Murgia A
Int J Pediatr Otorhinolaryngol 2018 Jan;104:88-93. Epub 2017 Oct 31 doi: 10.1016/j.ijporl.2017.10.042. PMID: 29287889

Clinical prediction guides

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
Cesca F, Bettella E, Polli R, Cama E, Scimemi P, Santarelli R, Murgia A
Int J Pediatr Otorhinolaryngol 2018 Jan;104:88-93. Epub 2017 Oct 31 doi: 10.1016/j.ijporl.2017.10.042. PMID: 29287889
Xia J, Deng H, Feng Y, Zhang H, Pan Q, Dai H, Long Z, Tang B, Deng H, Chen Y, Zhang R, Zheng D, He Y, Xia K
J Hum Genet 2002;47(12):635-40. doi: 10.1007/s100380200098. PMID: 12522684
Schönberger J, Levy H, Grünig E, Sangwatanaroj S, Fatkin D, MacRae C, Stäcker H, Halpin C, Eavey R, Philbin EF, Katus H, Seidman JG, Seidman CE
Circulation 2000 Apr 18;101(15):1812-8. doi: 10.1161/01.cir.101.15.1812. PMID: 10769282

Recent systematic reviews

Patil V, Perez-Carpena P, Lopez-Escamez JA
Clin Epigenetics 2024 Jul 5;16(1):88. doi: 10.1186/s13148-024-01697-9. PMID: 38970134Free PMC Article

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