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Autosomal dominant nonsyndromic hearing loss 54(DFNA54)

MedGen UID:
854731
•Concept ID:
C3888029
•
Disease or Syndrome
Synonym: Deafness, autosomal dominant 54
 
Monarch Initiative: MONDO:0014291
OMIM®: 615649

Definition

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31. [from MONDO]

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

Recent clinical studies

Etiology

Hair phenotype in non-syndromic deafness.
Volo T, Sathiyaseelan T, Astolfi L, Guaran V, Trevisi P, Emanuelli E, Martini A
Int J Pediatr Otorhinolaryngol 2013 Aug;77(8):1280-5. Epub 2013 Jun 14 doi: 10.1016/j.ijporl.2013.05.010. PMID: 23751281

Diagnosis

Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss.
Zhao Y, Zhao F, Zong L, Zhang P, Guan L, Zhang J, Wang D, Wang J, Chai W, Lan L, Li Q, Han B, Yang L, Jin X, Yang W, Hu X, Wang X, Li N, Li Y, Petit C, Wang J, Wang HY, Wang Q
PLoS One 2013;8(7):e69549. Epub 2013 Jul 30 doi: 10.1371/journal.pone.0069549. PMID: 23936043Free PMC Article
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family.
Sanggaard KM, Kjaer KW, Eiberg H, Nürnberg G, Nürnberg P, Hoffman K, Jensen H, Sørum C, Rendtorff ND, Tranebjaerg L
Am J Med Genet A 2008 Apr 15;146A(8):1017-25. doi: 10.1002/ajmg.a.32174. PMID: 18348273

Prognosis

Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss.
Zhao Y, Zhao F, Zong L, Zhang P, Guan L, Zhang J, Wang D, Wang J, Chai W, Lan L, Li Q, Han B, Yang L, Jin X, Yang W, Hu X, Wang X, Li N, Li Y, Petit C, Wang J, Wang HY, Wang Q
PLoS One 2013;8(7):e69549. Epub 2013 Jul 30 doi: 10.1371/journal.pone.0069549. PMID: 23936043Free PMC Article
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family.
Sanggaard KM, Kjaer KW, Eiberg H, Nürnberg G, Nürnberg P, Hoffman K, Jensen H, Sørum C, Rendtorff ND, Tranebjaerg L
Am J Med Genet A 2008 Apr 15;146A(8):1017-25. doi: 10.1002/ajmg.a.32174. PMID: 18348273

Clinical prediction guides

Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss.
Zhao Y, Zhao F, Zong L, Zhang P, Guan L, Zhang J, Wang D, Wang J, Chai W, Lan L, Li Q, Han B, Yang L, Jin X, Yang W, Hu X, Wang X, Li N, Li Y, Petit C, Wang J, Wang HY, Wang Q
PLoS One 2013;8(7):e69549. Epub 2013 Jul 30 doi: 10.1371/journal.pone.0069549. PMID: 23936043Free PMC Article
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family.
Sanggaard KM, Kjaer KW, Eiberg H, Nürnberg G, Nürnberg P, Hoffman K, Jensen H, Sørum C, Rendtorff ND, Tranebjaerg L
Am J Med Genet A 2008 Apr 15;146A(8):1017-25. doi: 10.1002/ajmg.a.32174. PMID: 18348273

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