Two novel mutations R653H and E230K in the Mediterranean fever gene associated with disease.
Familial Mediterranean fever (FMF) is an autosomal recessive disorder caused by mutations in the Mediterranean fever gene (MEFV). We describe two novel missense mutations in MEFV, R653H and E230K. Both were found in compound heterozygosity with the mutation M694V in single Turkish patients with clinical syndromes characteristic for FMF. DNA sequencing and PCR-RFLP typing of the families confirmed the mutations and verified recessive modes of inheritance.
Timmann
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C
Department of Molecular Medicine, Bernhard Nocht Institute for Tropical Medicine, Bernhard-Nocht-Strasse 74, D-20359, Hamburg, Germany. timmann@bni.uni-hamburg.de
Muntau
B
B
Kuhne
K
K
Gelhaus
A
A
Horstmann
R D
RD
D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D003001:Cloning, Molecular; D003062:Codon; D004252:DNA Mutational Analysis; D005091:Exons; D010505:Familial Mediterranean Fever / Q000235:genetics*; D005192:Family Health; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
D003062:Codon