Jove
Visualize
Contact Us

Related Experiment Videos

Genetic screening for hearing loss.

S W Hone1, R J H Smith

  • 1Department of Pediatric Otolaryngology/HNS, Alder Hay Hospital, Liverpool, UK. stephenhone@hotmail.com

Clinical Otolaryngology and Allied Sciences
|July 23, 2003
PubMed
Summary
This summary is machine-generated.

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

Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy.

American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons·2016
Same author

Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families.

Clinical genetics·2016
Same author

Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population.

Clinical genetics·2015
Same author

A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus.

Clinical genetics·2010
Same author

A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.

Clinical genetics·2010
Same author

Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.

Clinical genetics·2010
Same journal

Correspondence.

Clinical otolaryngology and allied sciences·2017
Same journal

Erratum.

Clinical otolaryngology and allied sciences·2013
Same journal

Compact training course in ear surgery erlangen, Germany, 26-28 february 1998.

Clinical otolaryngology and allied sciences·2013
Same journal

How we do it: a practical approach to Foley catheter posterior nasal packing.

Clinical otolaryngology and allied sciences·2004
Same journal

How we do it: management of tracheobronchial foreign bodies in children.

Clinical otolaryngology and allied sciences·2004
Same journal

Is cochlear outer hair cell function affected by mobile telephone radiation?

Clinical otolaryngology and allied sciences·2004
See all related articles
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

Genetic testing for GJB2 mutations is crucial for diagnosing inherited hearing loss, especially in infants. This analysis aids in identifying causes of non-syndromic hearing loss and guides further genetic screening.

Area of Science:

  • Genetics
  • Audiology
  • Molecular Biology

Background:

  • Mutations in the GJB2 gene, encoding connexin 26 (Cx26), are a leading cause of inherited hearing loss.
  • GJB2 mutations account for up to 50% of autosomal recessive non-syndromic hearing loss and a significant portion of sporadic cases.
  • Accurate genetic diagnosis is vital for effective medical evaluation and screening of hearing impairment.

Purpose of the Study:

  • To highlight the significance of GJB2 mutational analysis in diagnosing inherited hearing loss.
  • To emphasize the role of GJB2 screening in identifying causes of non-syndromic hearing loss in infants.
  • To outline current genetic testing strategies based on clinical features.

Main Methods:

  • GJB2 gene sequencing for mutational analysis.

Related Experiment Videos

  • Universal screening protocols for newborns with hearing loss.
  • Clinical correlation for selecting additional genetic tests.

    • Main Results:

    • GJB2 mutational analysis enables definitive diagnosis in up to 50% of babies with severe to profound non-syndromic hearing loss.
    • Coupling GJB2 analysis with universal screening improves diagnostic yield.
    • Specific clinical features guide the selection of other genetic tests like SLC26A4 and WFS1.

    Conclusions:

    • GJB2 gene testing is a cornerstone in the genetic evaluation of non-syndromic hearing loss.
    • Universal GJB2 screening can significantly improve early diagnosis and management of hearing impairment in infants.
    • Further genetic testing should be guided by specific clinical phenotypes for comprehensive diagnosis.