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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.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Genotype-Phenotype correlation of distal renal tubular acidosis in Tunisia.
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

Genotype-Phenotype correlation of distal renal tubular acidosis in Tunisia.
Hammi Y, Charfi H, Ferjani M, Sayari T, Mrad R, Gargah T
Tunis Med 2023 Aug-Sep;101(8-9):704-708. PMID: 38445406
Sebastian syndrome: report of the first case in a South American family.
Balderramo DC, Ricchi BN, Marun SG, Scaliter G, Alonso M
Haematologica 2003 May;88(5):ECR17. PMID: 12745286
Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24.
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

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
Genotype-Phenotype correlation of distal renal tubular acidosis in Tunisia.
Hammi Y, Charfi H, Ferjani M, Sayari T, Mrad R, Gargah T
Tunis Med 2023 Aug-Sep;101(8-9):704-708. PMID: 38445406
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.
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
A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.
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
R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.
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

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

A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.
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

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
A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.
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
A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree.
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
Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24.
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

A systematic review on the contribution of DNA methylation to hearing loss.
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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    • 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
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      Related information in PubMed Central Links
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      Related literature resources in PubMed

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