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Autosomal dominant nonsyndromic hearing loss 50(DFNA50)

MedGen UID:
854780
•Concept ID:
C3888123
•
Disease or Syndrome
Synonyms: Deafness, autosomal dominant 50; DFNA50 Nonsyndromic Hearing Loss and Deafness
 
Gene (location): MIR96 (7q32.2)
 
Monarch Initiative: MONDO:0013114
OMIM®: 613074

Definition

Autosomal dominant deafness-50 is a form of nonsyndromic hearing loss. Hearing impairment shows postlingual onset and is progressive (summary by Mencia et al., 2009). [from OMIM]

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
Tinnitus
MedGen UID:
52760
•Concept ID:
C0040264
•
Disease or Syndrome
Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.
See: Feature record | Search on this feature
Progressive hearing impairment
MedGen UID:
331224
•Concept ID:
C1842138
•
Finding
A progressive form of hearing impairment.
See: Feature record | Search on this feature
Progressive sensorineural hearing impairment
MedGen UID:
335894
•Concept ID:
C1843156
•
Disease or Syndrome
A progressive form of sensorineural hearing impairment.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study.
Oh KS, Walls D, Joo SY, Kim JA, Yoo JE, Koh YI, Kim DH, Rim JH, Choi HJ, Kim HY, Yu S, Smith RJ, Choi JY, Gee HY, Jung J
Hum Genet 2022 Apr;141(3-4):889-901. Epub 2021 Sep 16 doi: 10.1007/s00439-021-02368-y. PMID: 34529116Free PMC Article

Recent clinical studies

Etiology

Presymptomatic diagnosis of nonsyndromic hearing loss by genotyping.
Chen AH, Mueller RF, Prasad SD, Greinwald JH Jr, Manaligod J, Muilenburg AC, Verhoeven K, Van Camp G, Smith RJ
Arch Otolaryngol Head Neck Surg 1998 Jan;124(1):20-4. doi: 10.1001/archotol.124.1.20. PMID: 9440775
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

COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study.
Oh KS, Walls D, Joo SY, Kim JA, Yoo JE, Koh YI, Kim DH, Rim JH, Choi HJ, Kim HY, Yu S, Smith RJ, Choi JY, Gee HY, Jung J
Hum Genet 2022 Apr;141(3-4):889-901. Epub 2021 Sep 16 doi: 10.1007/s00439-021-02368-y. PMID: 34529116Free PMC Article
Single gene variants causing deafness in Asian Indians.
Panigrahi I, Kumari D, Anil Kumar BN
J Genet 2021;100 PMID: 34238775
Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.
DeMille D, Carlston CM, Tam OH, Palumbos JC, Stalker HJ, Mao R, Zori RT, Viskochil DH, Park AH, Carey JC
Am J Med Genet A 2018 Apr;176(4):945-950. doi: 10.1002/ajmg.a.38648. PMID: 29575629
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
Presymptomatic diagnosis of nonsyndromic hearing loss by genotyping.
Chen AH, Mueller RF, Prasad SD, Greinwald JH Jr, Manaligod J, Muilenburg AC, Verhoeven K, Van Camp G, Smith RJ
Arch Otolaryngol Head Neck Surg 1998 Jan;124(1):20-4. doi: 10.1001/archotol.124.1.20. PMID: 9440775

Prognosis

Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).
Zhu M, Yang T, Wei S, DeWan AT, Morell RJ, Elfenbein JL, Fisher RA, Leal SM, Smith RJ, Friderici KH
Am J Hum Genet 2003 Nov;73(5):1082-91. Epub 2003 Sep 16 doi: 10.1086/379286. PMID: 13680526Free PMC Article

Clinical prediction guides

COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study.
Oh KS, Walls D, Joo SY, Kim JA, Yoo JE, Koh YI, Kim DH, Rim JH, Choi HJ, Kim HY, Yu S, Smith RJ, Choi JY, Gee HY, Jung J
Hum Genet 2022 Apr;141(3-4):889-901. Epub 2021 Sep 16 doi: 10.1007/s00439-021-02368-y. PMID: 34529116Free 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
A novel locus DFNA59 for autosomal dominant nonsyndromic hearing loss maps at chromosome 11p14.2-q12.3.
Chatterjee A, Jalvi R, Pandey N, Rangasayee R, Anand A
Hum Genet 2009 Jan;124(6):669-75. Epub 2008 Nov 22 doi: 10.1007/s00439-008-0596-3. PMID: 19030898
A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred.
Salam AA, Häfner FM, Linder TE, Spillmann T, Schinzel AA, Leal SM
Am J Hum Genet 2000 Jun;66(6):1984-8. Epub 2000 Apr 24 doi: 10.1086/302931. PMID: 10777717Free PMC Article
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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