U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Autosomal recessive nonsyndromic hearing loss 1B(DFNB1B)

MedGen UID:
436381
•Concept ID:
C2675235
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 1b
 
Gene (location): GJB6 (13q12.11)
 
Monarch Initiative: MONDO:0012977
OMIM®: 612645

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 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
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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Diagnosis

Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next-generation sequencing in a Chinese family with nonsyndromic hearing loss.
Xiang Y, Xu C, Xu Y, Zhou L, Tang S, Xu X
J Clin Lab Anal 2022 Nov;36(11):e24708. Epub 2022 Sep 26 doi: 10.1002/jcla.24708. PMID: 36164746Free PMC Article

Prognosis

Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness.
Ben Rebeh I, Morinière M, Ayadi L, Benzina Z, Charfedine I, Feki J, Ayadi H, Ghorbel A, Baklouti F, Masmoudi S
Mol Vis 2010 Sep 30;16:1898-906. PMID: 21031134Free PMC Article

Clinical prediction guides

Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness.
Ben Rebeh I, Morinière M, Ayadi L, Benzina Z, Charfedine I, Feki J, Ayadi H, Ghorbel A, Baklouti F, Masmoudi S
Mol Vis 2010 Sep 30;16:1898-906. PMID: 21031134Free PMC Article

Supplemental Content

Table of contents

    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
    • MeSH
      Related Medical Subject Headings
    • 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

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...