Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Non-syndromic, autosomal-recessive deafness.

M B Petersen1, P J Willems

  • 1Department of Genetics, Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece. inchildh@otenet.gr

Clinical Genetics
|May 3, 2006
PubMed
Summary

Genetic heterogeneity causes non-syndromic deafness, with 23 autosomal-recessive genes identified. Mutations in GJB2 (connexin 26) are a major cause of pre-lingual deafness.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

A pilot study of mercury in Greenland sled dogs in Greenland: Civilian versus military owned dogs. Greenlandic: Mississueqqaarneq Qimmit Qimuttut Aavani Meqquinilu Kviksiilveqarnersut.

Environmental research·2025
Same author

Serum Amyloid A and Haptoglobin concentrations in calves at first event of respiratory disease were not associated with subsequent risk of respiratory disease during the preweaning period.

Veterinary journal (London, England : 1997)·2024
Same author

No effect of oral sucrose or IV glucose during exercise in phosphorylase b kinase deficiency.

Neuromuscular disorders : NMD·2020
Same author

Targeted gene sequencing and whole-exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies.

Clinical genetics·2017
Same author

Effects of active commuting and leisure-time exercise on fat loss in women and men with overweight and obesity: a randomized controlled trial.

International journal of obesity (2005)·2017
Same author

DNA Diagnosis of Cystic Fibrosis by Direct Detection of the Af508 Mutation.

Acta clinica Belgica·2016

Area of Science:

  • Genetics
  • Otolaryngology
  • Molecular Biology

Background:

  • Non-syndromic deafness exhibits significant genetic heterogeneity, with numerous loci and genes identified.
  • Autosomal-recessive genes account for approximately 80% of hereditary pre-lingual non-syndromic deafness cases.
  • Twenty-three distinct genes have been identified to date that are associated with this condition.

Purpose of the Study:

  • To review the 23 identified DFNB genes responsible for hereditary non-syndromic deafness.
  • To analyze the function of these genes and their prevalence in different populations.
  • To highlight the heterogeneity in genetic causes of hearing loss.

Main Methods:

  • Literature review of genetic studies on non-syndromic deafness.
  • Analysis of gene function and mutation data.
  • Population-based assessment of gene contributions.

Main Results:

  • The reviewed DFNB genes encompass a wide range of functions crucial for hearing.
  • Mutations in the GJB2 gene (connexin 26) are implicated in up to 50% of pre-lingual recessive deafness.
  • Most other DFNB genes have been found in limited families, suggesting a smaller population-level impact.

Conclusions:

  • The genetic landscape of non-syndromic deafness is complex and diverse.
  • Understanding these genes is vital for diagnosing and potentially treating hearing loss.
  • Further identification of genes will enhance comprehension of hearing mechanisms and auditory disorders.

Related Experiment Videos