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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.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation.
Xiao ZA, Xie DH
Chin Med J (Engl) 2004 Dec;117(12):1797-801. PMID: 15603707
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

Cingulin regulates hair cell cuticular plate morphology and is required for hearing in human and mouse.
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
Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.
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
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.
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
Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss.
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
A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family.
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

Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.
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

Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss.
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

Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss.
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
A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family.
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
Autosomal-dominant, prelingual, nonprogressive sensorineural hearing loss: localization of the gene (DFNA8) to chromosome 11q by linkage in an Austrian family.
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
Inherited nonsyndromic hearing loss. An audiovestibular study in a large family with autosomal dominant progressive hearing loss related to DFNA2.
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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