Clinical significance of MEFV gene variation R202Q

Background The aim of this study was to evaluate the phenotypic features and the clinical significance of the R202Q mutation of the MEFV gene. Methods We retrospectively reviewed the medical records of Familial Mediterranean Fever patients with M694V/- and M694V/R202Q mutations. We compared the pati...

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Bibliographic Details
Published in:Clinical rheumatology 2022, Vol.41 (1), p.271-274
Main Authors: Kandur, Yaşar, Kocakap, Derya Beyza Sayın, Alpcan, Aysegul, Tursun, Serkan
Format: Article
Language:English
Subjects:
Arthritis
Child
Child, Preschool
Clinical significance
Consanguinity
Familial Mediterranean fever
Familial Mediterranean Fever - genetics
Female
Heterozygote
Heterozygotes
Homozygote
Humans
Inflammation
Male
Medical records
Medicine
Medicine & Public Health
Mutation
Original Article
Patients
Phenotypes
Pyrin - genetics
Pyrin protein
Retrospective Studies
Rheumatology
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Summary:Background The aim of this study was to evaluate the phenotypic features and the clinical significance of the R202Q mutation of the MEFV gene. Methods We retrospectively reviewed the medical records of Familial Mediterranean Fever patients with M694V/- and M694V/R202Q mutations. We compared the patients regarding disease severity, symptoms, age at the onset of symptoms, gender, consanguinity, and family history. Results Twenty-one patients (9 males, 12 females) had compound heterozygote mutation (M694V/R202Q), and 37 patients (23 males, 14 females) had M694V/- mutation. The mean age of the patients at the time of diagnosis was 7.3 ± 4.3 and 9.2 ± 3.7 years. The rate of arthritis was significantly higher in patients with M694V/R202Q heterozygote mutation than those with M694V/- heterozygote mutation (76.2% vs 32.4%; p  =  
ISSN:0770-3198
1434-9949
DOI:10.1007/s10067-021-05906-1