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Autosomal dominant nonsyndromic hearing loss 31(DFNA31)

MedGen UID:
325209
•Concept ID:
C1837617
•
Disease or Syndrome
Synonym: Deafness, autosomal dominant 31
 
Monarch Initiative: MONDO:0012086
OMIM®: 608645

Definition

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p21.3. [from MONDO]

Clinical features

From HPO
Old-aged sensorineural hearing impairment
MedGen UID:
10911
•Concept ID:
C0033074
•
Pathologic Function
Bilateral hearing loss caused by progressive degeneration of cochlear structures and central auditory pathways, typically associated with the aging process.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.
Hiramatsu K, Nishio SY, Kitajiri SI, Kitano T, Moteki H, Usami SI, On Behalf Of The Deafness Gene Study Consortium
Genes (Basel) 2021 Oct 15;12(10) doi: 10.3390/genes12101623. PMID: 34681017Free PMC Article
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
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

Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.
Hiramatsu K, Nishio SY, Kitajiri SI, Kitano T, Moteki H, Usami SI, On Behalf Of The Deafness Gene Study Consortium
Genes (Basel) 2021 Oct 15;12(10) doi: 10.3390/genes12101623. PMID: 34681017Free PMC Article
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

Clinical prediction guides

A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss.
Faletra F, Girotto G, D'Adamo AP, Vozzi D, Morgan A, Gasparini P
Gene 2014 Jan 25;534(2):236-9. Epub 2013 Nov 6 doi: 10.1016/j.gene.2013.10.052. PMID: 24211385
Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss.
Kalay E, Karaguzel A, Caylan R, Heister A, Cremers FP, Cremers CW, Brunner HG, de Brouwer AP, Kremer H
Hum Mutat 2005 Dec;26(6):591. doi: 10.1002/humu.9384. PMID: 16287143

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