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

[Hereditary sensorineural deafness].

F Denoyelle1, S Marlin, C Petit

  • 1Service d'ORL pédiatrique et de chirurgie cervicofaciale, Hôpital d'enfants Armand-Trousseau, Paris.

La Revue Du Praticien
|March 29, 2000
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

Azacitidine-venetoclax versus azacitidine salvage treatment for primary induction failure or first relapsed acute myeloid leukaemia patients.

European journal of haematology·2023
Same author

Radiation therapy in the thoracic region: Radio-induced cardiovascular disease, cardiac delineation and sparing, cardiac dose constraints, and cardiac implantable electronic devices.

Cancer radiotherapie : journal de la Societe francaise de radiotherapie oncologique·2023
Same author

Reply to letter by Hadigal et al. regarding the cost-effectiveness of high dose quadrivalent vaccine in three European countries.

Journal of medical economics·2023
Same author

Interparticle Forces of a Native and Encapsulated Metal-Organic Framework and Their Effects on Colloidal Dispersion.

ACS applied materials & interfaces·2021
Same author

Extended embryo culture is effective for patients of an advanced maternal age.

Scientific reports·2021
Same author

Zinc and cadmium accumulation in controlled crosses between metallicolous and nonmetallicolous populations of Thlaspi caerulescens (Brassicaceae).

The New phytologist·2021
Same journal

[Prolonged fever].

La Revue du praticien·2026
Same journal

[Lower gastrointestinal bleeding].

La Revue du praticien·2026
Same journal

[Management of antiplatelet agents and oral anticoagulants in cases of gastrointestinal bleeding].

La Revue du praticien·2026
Same journal

[A history of child abuse intervention in the West].

La Revue du praticien·2026
Same journal

[Agranulocytose médicamenteuse].

La Revue du praticien·2026
Same journal

[Patient education in heart failure].

La Revue du praticien·2026
See all related articles

Genetic testing for deafness, particularly the connexin 26 gene (DFNB1), is crucial. Identifying the cause of hearing loss aids genetic counseling and management, especially for non-syndromic congenital deafness.

Area of Science:

  • Genetics
  • Otolaryngology
  • Medical Diagnostics

Background:

  • Deafness is the most common sensory defect, with genetic factors accounting for approximately two-thirds of congenital and childhood cases.
  • Genetic deafness can be syndromic, with sometimes inapparent signs, or non-syndromic, often with autosomal recessive inheritance.
  • Systematic evaluation for syndromes is necessary in all deaf individuals.

Purpose of the Study:

  • To highlight the critical role of investigating the cause of deafness for genetic counseling and management.
  • To emphasize the significance of DFNB1, caused by connexin 26 gene mutations, in non-syndromic congenital deafness.
  • To discuss the impact of molecular diagnostics for connexin 26 gene defects on medical practice.

Main Methods:

  • Review of genetic causes of deafness, focusing on syndromic and non-syndromic forms.

Related Experiment Videos

  • Identification of DFNB1 (connexin 26 gene mutations) as a major cause of non-syndromic congenital deafness.
  • Discussion of clinical and diagnostic features of DFNB1-related hearing loss.

    • Main Results:

    • DFNB1 mutations account for half of non-syndromic congenital deafness cases.
    • DFNB1-related hearing loss is typically prelingual, severe to profound, with normal inner ear imaging and vestibular function.
    • Molecular diagnosis of connexin 26 gene defects is transforming deafness investigation.

    Conclusions:

    • Investigating the etiology of deafness is essential for accurate genetic counseling and patient management.
    • Connexin 26 gene mutations (DFNB1) are a primary cause of non-syndromic congenital deafness.
    • Molecular diagnostics for connexin 26 gene defects offer significant advancements in understanding and managing hearing loss.