Autosomal dominant nonsyndromic hearing loss 53(DFNA53)

MedGen UID:: 355336
•Concept ID:: C1864957
•: Disease or Syndrome

Synonyms:	Autosomal dominant nonsyndromic deafness 53; DEAFNESS, AUTOSOMAL DOMINANT 53; Deafness, autosomal dominant nonsyndromic sensorineural 53

Monarch Initiative:	MONDO:0012380
OMIM®:	609965

Definition

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 14q11.2-q12. [from MONDO]

Clinical features

From HPO

Sensorineural hearing impairment

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

Abnormality of the ear
- Abnormal vestibular function
- Sensorineural hearing impairment

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHereditary hearing loss and deafness

Hereditary hearing loss and deafness
- Nonsyndromic genetic hearing loss
  - Autosomal dominant nonsyndromic hearing loss
    - Autosomal dominant nonsyndromic hearing loss 53

Professional guidelines

PubMed

Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss.

Lee SY, Choi HB, Park M, Choi IS, An J, Kim A, Kim E, Kim N, Han JH, Kim MY, Lee SM, Oh DY, Kim BJ, Yi N, Kim NKD, Lee C, Park WY, Koh YI, Gee HY, Cho HS, Kang TM, Choi BY
Exp Mol Med 2021 Jul;53(7):1192-1204. Epub 2021 Jul 28 doi: 10.1038/s12276-021-00653-4. PMID: 34316018 Free PMC Article

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Recent clinical studies

Diagnosis

Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.

Van Heurck R, Carminho-Rodrigues MT, Ranza E, Stafuzza C, Quteineh L, Gehrig C, Hammar E, Guipponi M, Abramowicz M, Senn P, Guinand N, Cao-Van H, Paoloni-Giacobino A
Genes (Basel) 2021 Aug 20;12(8) doi: 10.3390/genes12081277. PMID: 34440452 Free PMC Article

Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss.

Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss.

Zhao Y, Zhao F, Zong L, Zhang P, Guan L, Zhang J, Wang D, Wang J, Chai W, Lan L, Li Q, Han B, Yang L, Jin X, Yang W, Hu X, Wang X, Li N, Li Y, Petit C, Wang J, Wang HY, Wang Q
PLoS One 2013;8(7):e69549. Epub 2013 Jul 30 doi: 10.1371/journal.pone.0069549. PMID: 23936043 Free PMC Article

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