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Autosomal dominant nonsyndromic hearing loss 15(DFNA15)

MedGen UID:
355451
Concept ID:
C1865366
Disease or Syndrome
Synonyms: Deafness, autosomal dominant 15; DEAFNESS, AUTOSOMAL DOMINANT 52; DFNA15 Nonsyndromic Hearing Loss and Deafness
 
Gene (location): POU4F3 (5q32)
 
Monarch Initiative: MONDO:0011226
OMIM®: 602459

Definition

Autosomal dominant deafness-15 (DFNA15) is a form of progressive nonsyndromic sensorineural hearing loss with postlingual onset between the second and sixth decades of life (summary by Kim et al., 2013). [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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Xiao ZA, Xie DH
Chin Med J (Engl) 2004 Dec;117(12):1797-801. PMID: 15603707
Liu X, Xu L
Ann Otol Rhinol Laryngol 1994 Jun;103(6):428-33. doi: 10.1177/000348949410300602. PMID: 8203808

Diagnosis

Zhu GJ, Huang Y, Zhang L, Yan K, Qiu C, He Y, Liu Q, Zhu C, Morín M, Moreno-Pelayo MÁ, Zhu MS, Cao X, Zhou H, Qian X, Xu Z, Chen J, Gao X, Wan G
EMBO Mol Med 2023 Nov 8;15(11):e17611. Epub 2023 Sep 11 doi: 10.15252/emmm.202317611. PMID: 37691516Free PMC Article
Van Heurck R, Carminho-Rodrigues MT, Ranza E, Stafuzza C, Quteineh L, Gehrig C, Hammar E, Guipponi M, Abramowicz M, Senn P, Guinand N, Cao-Van H, Paoloni-Giacobino A
Genes (Basel) 2021 Aug 20;12(8) doi: 10.3390/genes12081277. PMID: 34440452Free PMC Article
García-García G, Berzal-Serrano A, García-Díaz P, Villanova-Aparisi R, Juárez-Rodríguez S, de Paula-Vernetta C, Cavallé-Garrido L, Jaijo T, Armengot-Carceller M, Millán JM, Aller E
Genes (Basel) 2020 Dec 7;11(12) doi: 10.3390/genes11121467. PMID: 33297549Free PMC Article
Cui TY, Gao X, Huang SS, Sun YY, Zhang SQ, Jiang XX, Yang YZ, Kang DY, Zhu QW, Yuan YY
Neural Plast 2020;2020:6137083. Epub 2020 Jul 1 doi: 10.1155/2020/6137083. PMID: 32684921Free PMC Article
Bai H, Yang X, Temuribagen, Guilan, Suyalatu, Narisu, Wu H, Chen Y, Liu Y, Wu Q
BMC Med Genet 2014 Mar 19;15:34. doi: 10.1186/1471-2350-15-34. PMID: 25008054Free PMC Article

Therapy

García-García G, Berzal-Serrano A, García-Díaz P, Villanova-Aparisi R, Juárez-Rodríguez S, de Paula-Vernetta C, Cavallé-Garrido L, Jaijo T, Armengot-Carceller M, Millán JM, Aller E
Genes (Basel) 2020 Dec 7;11(12) doi: 10.3390/genes11121467. PMID: 33297549Free PMC Article

Prognosis

Lei P, Zhu Q, Dong W
Sci Rep 2024 Feb 27;14(1):4734. doi: 10.1038/s41598-024-55435-5. PMID: 38413761Free PMC Article

Clinical prediction guides

Lei P, Zhu Q, Dong W
Sci Rep 2024 Feb 27;14(1):4734. doi: 10.1038/s41598-024-55435-5. PMID: 38413761Free PMC Article
Bai H, Yang X, Temuribagen, Guilan, Suyalatu, Narisu, Wu H, Chen Y, Liu Y, Wu Q
BMC Med Genet 2014 Mar 19;15:34. doi: 10.1186/1471-2350-15-34. PMID: 25008054Free PMC Article
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
Marres H, van Ewijk M, Huygen P, Kunst H, van Camp G, Coucke P, Willems P, Cremers C
Arch Otolaryngol Head Neck Surg 1997 Jun;123(6):573-7. doi: 10.1001/archotol.1997.01900060015002. PMID: 9193215

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