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MEFV gene mutations in Egyptian children with Henoch-Schonlein purpura
Samia Salah1, Samia Rizk2, Hala M Lotfy1
1Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
Background:
Due to an increased frequency of vasculitis in FMF patients, many investigators have studied MEFV mutations in patients with HSP. The aim of the study is to investigate the frequency and clinical significance of MEFV mutations in Egyptian children with Henoch-Schonlein purpura (HSP). Investigating MEFV mutations in controls may help in estimating the prevalence of MEFV mutation carrier rate in Egyptian children.
Methods:
The study enrolled 90 individuals, sixty children with Henoch-Schonlein purpura (HSP), together with 30 sex-and age-matched apparently healthy controls. The entire study group was screened for 12 common MEFV mutations using a reverse hybridization assay of biotinylated PCR products.
Results:
Patients with HSP had a significantly higher frequency of MEFV mutations (61.7%), when compared to the apparently healthy control population (36.7%). V726A was the most frequent mutation with an allelic frequency of 10.8%. Ninety- one percent of patients with MEFV mutations were heterozygous for one mutation, while 8.1% had a compound heterozygous MEFV gene mutations. The mutation V726A, followed by E148Q, were the leading mutations, present in 16.6% and in 13.3% of controls.
Conclusions:
MEFV mutations may be related to HSP susceptibility in children. The mutations were not associated with any clinical and laboratory manifestations. Screening for MEFV mutations in larger number of HSP children may be beneficial to evaluate any possible relationship between certain types of MEFV mutations and HSP, and compare the HSP MEFV mutations to the types of MEFV mutations associated with FMF.
Insights
MEFV gene mutations are more common in Egyptian children with Henoch-Schonlein purpura (HSP). These mutations may increase susceptibility to HSP but are not linked to disease severity.
Area of Science:
- Genetics
- Pediatrics
- Immunology
Background:
- Vasculitis is more frequent in Familial Mediterranean Fever (FMF) patients.
- MEFV mutations are being investigated in Henoch-Schonlein purpura (HSP) patients.
- This study examines MEFV mutations in Egyptian children with HSP.
Purpose of the Study:
- To investigate the frequency of MEFV mutations in Egyptian children with HSP.
- To determine the clinical significance of MEFV mutations in these patients.
- To estimate the MEFV mutation carrier rate in the general Egyptian pediatric population.
Main Methods:
- Sixty children diagnosed with HSP and 30 healthy controls were enrolled.
- A reverse hybridization assay was used to screen for 12 common MEFV mutations.
- The study analyzed the frequency and types of MEFV mutations in both groups.
Main Results:
- MEFV mutations were significantly more frequent in children with HSP (61.7%) compared to controls (36.7%).
- V726A was the most common mutation, followed by E148Q.
- Most patients with mutations were heterozygous for a single mutation.
Conclusions:
- MEFV mutations may be associated with susceptibility to HSP in children.
- No clear association was found between MEFV mutations and clinical or laboratory manifestations of HSP.
- Further research with larger cohorts is recommended to explore specific mutation-HSP relationships.
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