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Autosomal dominant nonsyndromic hearing loss 70(DFNA70)

MedGen UID:
934742
Concept ID:
C4310775
Disease or Syndrome
Synonym: Deafness, autosomal dominant 70
 
Gene (location): MCM2 (3q21.3)
 
Monarch Initiative: MONDO:0014853
OMIM®: 616968

Definition

Autosomal dominant deafness-70 (DFNA70) is a form of nonsyndromic sensorineural hearing loss. Hearing impairment shows postlingual onset and is slowly progressive (Gao et al., 2015). [from OMIM]

Clinical features

From HPO
Progressive sensorineural hearing impairment
MedGen UID:
335894
Concept ID:
C1843156
Disease or Syndrome
A progressive form of sensorineural hearing impairment.
Abnormal vestibular function
MedGen UID:
334848
Concept ID:
C1843865
Finding
An abnormality of the functioning of the vestibular apparatus.

Recent clinical studies

Etiology

Alford RL
Adv Otorhinolaryngol 2011;70:37-42. Epub 2011 Feb 24 doi: 10.1159/000322867. PMID: 21358183

Diagnosis

Kim YR, Kim HM, Lee B, Baek JI, Lee KY, Park HJ, Kim UK
Genes Genomics 2023 Feb;45(2):225-230. Epub 2023 Jan 11 doi: 10.1007/s13258-022-01357-3. PMID: 36630074
Alford RL
Adv Otorhinolaryngol 2011;70:37-42. Epub 2011 Feb 24 doi: 10.1159/000322867. PMID: 21358183

Prognosis

Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ
Hum Mutat 2014 Jul;35(7):819-23. Epub 2014 May 6 doi: 10.1002/humu.22557. PMID: 24729539Free PMC Article

Clinical prediction guides

Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ
Hum Mutat 2014 Jul;35(7):819-23. Epub 2014 May 6 doi: 10.1002/humu.22557. PMID: 24729539Free PMC Article

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