Related Experiment Video
Updated: Aug 4, 2026

Forskolin-induced Swelling in Intestinal Organoids: An In Vitro Assay for Assessing Drug Response in Cystic Fibrosis Patients
Published on: February 11, 2017
Delta-F508 cystic fibrosis mutation is not linked to intussusception: implications for rotavirus vaccine
G Barnes1, A Srivastava, J Carlin
1The Murdoch Childrens Research Institute, University of Melbourne, Royal Children's Hospital, Parkville, Australia. graeme.barnes@rch.org.au
Insights
The cystic fibrosis (CF) delta-F508 gene mutation does not predispose infants to intussusception. Therefore, CF screening is not relevant for rotavirus vaccine programs.
Area of Science:
- Genetics
- Pediatrics
- Vaccinology
Background:
- Intussusception is a serious intestinal condition in infants.
- The delta-F508 mutation is the most common mutation causing cystic fibrosis (CF).
- Concerns exist regarding potential links between CF mutations and intussusception, impacting rotavirus vaccine recommendations.
Purpose of the Study:
- To investigate if the delta-F508 mutation in cystic fibrosis (CF) predisposes infants to intussusception.
- To determine if identifying infants with the delta-F508 mutation could inform rotavirus vaccination strategies.
Main Methods:
- Neonatal screening blood spots from 81 infants diagnosed with intussusception and 79 control infants were analyzed.
- The presence of the CF delta-F508 gene mutation was tested in all blood specimens.
Main Results:
- The prevalence of the delta-F508 mutation was found to be similar between infants with intussusception and the control group.
- No statistically significant difference in mutation frequency was observed.
Conclusions:
- Screening for the delta-F508 mutation at birth is unlikely to identify infants at increased risk for intussusception.
- The findings suggest that testing for this CF mutation is not relevant for current rotavirus vaccine programs.
Objective:
To determine whether the cystic fibrosis (CF) delta-F508 gene mutation predisposes to intussusception, and so selects infants who should not receive rotavirus vaccine.
Methods:
Stored neonatal screening blood spots, retrieved from 81 infants with intussusception and from 79 controls, were tested for the presence of the CF delta-F508 gene mutation.
Results:
Prevalence of the mutation was similar in blood specimens from intussusception patients and from controls.
Conclusion:
Testing for the CF delta-F508 mutation at birth is unlikely to identify infants predisposed to intussusception, and therefore is not relevant to rotavirus vaccine programs.
Related Concept Videos
Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Poliomyelitis
Respiratory Syncytial Virus Disease

