Cluster of patients with Familial Mediterranean fever and heterozygous carriers of mutations inMEFVgene in the Czech Republic

Autor:	A. Gregorová, Anna Sediva, Nataša Toplak, M. Horackova, Rudolf Horvath, Maruša Debeljak, M. Tesařová, V. Maňásek, P. Plevová
Rok vydání:	2013
Předmět:	Genetics Czech Familial Mediterranean fever Heterozygote advantage Biology medicine.disease MEFV language.human_language chemistry.chemical_compound chemistry Cohort medicine language Colchicine Epigenetics Gene Genetics (clinical)
Zdroj:	Clinical Genetics. 86:564-569
ISSN:	0009-9163
Popis:	Familial Mediterranean fever (FMF) is a well-described monogenic autosomal recessive disorder with highest occurrence in the Mediterranean region. In this article, we describe the experience of a center in the Czech Republic that follows four families with members bearing mutations in MEFV gene without provable ancestry from the Mediterranean region. We also discuss the clinical picture of the heterozygous variants that were present in our cohort. The typical clinical presentation in heterozygotes corresponds to data described in the international literature. The possibility of combination of mutations and/or polymorphisms in different genes and epigenetic or environmental influences on the clinical symptoms are taken into account.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::203e8c2c221ffafab064b627ac6641e5 https://doi.org/10.1111/cge.12323 Zobrazit plný text záznamu Plný text