Autosomal recessive nonsyndromic hearing loss 89(DFNB89)

MedGen UID:: 462701
•Concept ID:: C3151351
•: Disease or Syndrome

Synonym:	Deafness, autosomal recessive 89

Gene (location): Gene(s) directly associated with this condition or phenotype.	KARS1 (16q23.1)

Monarch Initiative:	MONDO:0013489
OMIM®:	613916

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the KARS gene. [from MONDO]

Clinical features

From HPO

Hearing impairment

MedGen UID:: 235586
•Concept ID:: C1384666
•: Disease or Syndrome

A decreased magnitude of the sensory perception of sound.

See: Feature record | Search on this feature

Ear malformation
- 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
  - Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
    - Autosomal recessive nonsyndromic hearing loss 89

Recent clinical studies

Etiology

Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequency.

Mahdieh N, Rabbani B
Int J Audiol 2009;48(6):363-70. doi: 10.1080/14992020802607449. PMID: 19925344

See all (1)

Diagnosis

Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequency.

Mahdieh N, Rabbani B
Int J Audiol 2009;48(6):363-70. doi: 10.1080/14992020802607449. PMID: 19925344

Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss.

Cohn ES, Kelley PM
Am J Med Genet 1999 Sep 24;89(3):130-6. PMID: 10704187

See all (2)

Therapy

Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequency.

Mahdieh N, Rabbani B
Int J Audiol 2009;48(6):363-70. doi: 10.1080/14992020802607449. PMID: 19925344

See all (1)

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Autosomal recessive nonsyndromic hearing loss 89(DFNB89)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

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