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 Concept Videos

Exon Recombination02:32

Exon Recombination

3.6K
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...
3.6K
  1. Home
  3. Research Domains
  5. Chemical Sciences
  7. Physical Chemistry
  9. Transport Properties And Non-equilibrium Processes
  11. Connexin 30 (gjb6) Deletion As A Cause Of A False Positive Sweat Test Result

Connexin 30 (GJB6) deletion as a cause of a false positive sweat test result

Anna Rossell1, Aleix Soler-Garcia2,3,4, Loreto Martorell5

  • 1Pediatrics Department, Hospital Sant Joan de Déu, Passeig de Sant Joan de Déu 2, 08950, Esplugues de LlobregatBarcelona, Spain.

European Journal of Pediatrics
|June 12, 2025

Related Experiment Videos

Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein
05:48

Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein

Published on: March 16, 2022

2.6K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.6K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.7K

View abstract on PubMed

Summary
This summary is machine-generated.

Deletions in both connexin 30 alleles can cause false positive sweat tests, potentially indicating a higher risk for hyponatremic dehydration in individuals with neurosensory deafness. Further research is needed to understand this association.

Area of Science:

  • Genetics
  • Clinical Diagnostics
  • Otolaryngology

Background:

  • The sweat test is the gold standard for diagnosing cystic fibrosis.
  • False positive results in sweat tests are increasingly recognized.
  • Connexin 30 mutations are linked to neurosensory deafness.

Purpose of the Study:

  • To identify a previously unreported cause of false positive sweat tests.
  • To investigate the association between connexin 30 gene mutations and sweat test results.

Main Methods:

  • An observational, cross-sectional single-center study was conducted.
  • Three patients with homozygous connexin 30 gene deletions and neurosensory deafness were recruited.
  • Sweat tests were performed on these patients and their first-degree relatives with hearing impairment.
Keywords:
GJB6And Neurosensory deafnessConnexin 30Sweat test

Related Experiment Videos

Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein
05:48

Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein

Published on: March 16, 2022

2.6K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.6K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.7K

Main Results:

  • Two of the three patients with connexin 30 deletions had positive sweat tests.
  • The third patient had a borderline sweat test result (57 mmol/L).
  • No positive sweat tests were observed in individuals with other mutation patterns.

Conclusions:

  • Homozygous connexin 30 gene mutations are associated with positive sweat tests.
  • This finding may suggest an increased risk of hyponatremic dehydration.
  • The exact mechanism for sweat test positivity in these cases remains unclear but may involve connexin 30's role in sweat glands.