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Autosomal dominant nonsyndromic hearing loss 66(DFNA66)

MedGen UID:
924418
•Concept ID:
C4283893
•
Disease or Syndrome
Synonym: Deafness, autosomal dominant 66
 
Gene (location): CD164 (6q21)
 
Monarch Initiative: MONDO:0014854
OMIM®: 616969

Definition

Autosomal dominant deafness-66 is a form of nonsyndromic sensorineural hearing impairment with widely variable age at onset (Nyegaard et al., 2015). [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
Abnormal vestibular function
MedGen UID:
334848
•Concept ID:
C1843865
•
Finding
An abnormality of the functioning of the vestibular apparatus.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

A KCNQ4 c.546C>G Genetic Variant Associated with Late Onset Non-Syndromic Hearing Loss in a Taiwanese Population.
Yen TT, Chen IC, Hua MW, Wei CY, Shih KH, Li JL, Lin CH, Hsiao TH, Chen YM, Jiang RS
Genes (Basel) 2021 Oct 27;12(11) doi: 10.3390/genes12111711. PMID: 34828318Free PMC Article

Clinical prediction guides

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
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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    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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