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Autosomal dominant nonsyndromic hearing loss 59(DFNA59)

MedGen UID:
390743
•Concept ID:
C2675238
•
Disease or Syndrome
Synonym: Deafness, autosomal dominant 59
 
Monarch Initiative: MONDO:0012974
OMIM®: 612642

Definition

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 11p14.2-q12.3. [from MONDO]

Clinical features

From HPO
Sensorineural hearing loss disorder
MedGen UID:
9164
•Concept ID:
C0018784
•
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Early onset and rapid progression of dominant nonsyndromic DFNA36 hearing loss.
Makishima T, Kurima K, Brewer CC, Griffith AJ
Otol Neurotol 2004 Sep;25(5):714-9. doi: 10.1097/00129492-200409000-00011. PMID: 15354000

Diagnosis

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
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
Early onset and rapid progression of dominant nonsyndromic DFNA36 hearing loss.
Makishima T, Kurima K, Brewer CC, Griffith AJ
Otol Neurotol 2004 Sep;25(5):714-9. doi: 10.1097/00129492-200409000-00011. PMID: 15354000
Mitochondrial disorders.
Zeviani M, Tiranti V, Piantadosi C
Medicine (Baltimore) 1998 Jan;77(1):59-72. doi: 10.1097/00005792-199801000-00006. PMID: 9465864

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

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

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 (DFNA24) for prelingual nonprogressive autosomal dominant nonsyndromic hearing loss maps to 4q35-qter in a large Swiss German kindred.
Häfner FM, Salam AA, Linder TE, Balmer D, Baumer A, Schinzel AA, Spillmann T, Leal SM
Am J Hum Genet 2000 Apr;66(4):1437-42. Epub 2000 Mar 17 doi: 10.1086/302865. PMID: 10739769Free PMC Article

Supplemental Content

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    • OMIM
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