RGD Reference Report - MEFV gene mutations in Egyptian children with Henoch-Schonlein purpura. - Rat Genome Database

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MEFV gene mutations in Egyptian children with Henoch-Schonlein purpura.

Authors: Salah, S  Rizk, S  Lotfy, HM  El Houchi, S  Marzouk, H  Farag, Y 
Citation: Salah S, etal., Pediatr Rheumatol Online J. 2014 Sep 9;12:41. doi: 10.1186/1546-0096-12-41. eCollection 2014.
RGD ID: 11531116
Pubmed: (View Article at PubMed) PMID:25232290
DOI: Full-text: DOI:10.1186/1546-0096-12-41

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.

Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Mefv  (MEFV innate immuity regulator, pyrin)

Genes (Mus musculus)
Mefv  (Mediterranean fever)

Genes (Homo sapiens)
MEFV  (MEFV innate immuity regulator, pyrin)

Additional Information