TY - JOUR
T1 - Familial Mediterranean Fever Associated with MEFV Mutations in a Large Cohort of Cypriot Patients
AU - Neocleous, Vassos
AU - Costi, Constantina
AU - Kyriakou, Christina
AU - Kyriakides, Tassos C.
AU - Shammas, Christos
AU - Skordis, Nicos
AU - Toumba, Meropi
AU - Kyriakou, Sophia
AU - Koliou, Maria
AU - Kousparou, Marianna
AU - Onoufriou, Margarita
AU - Hadjipanayis, Adamos
AU - Iasonides, Michalis
AU - Atamyan, Vick N.
AU - Pierides, Alkis
AU - Christophidou-Anastasiadou, Violetta
AU - Tanteles, George A.
AU - Phylactou, Leonidas A.
PY - 2015/1/1
Y1 - 2015/1/1
N2 - Familial Mediterranean fever (FMF) is caused by mutations in the MEFV gene and the spectrum of mutations among Greek-Cypriots with FMF-related symptoms was examined. Sequence analysis for exons 2, 3, 5, and 10 of the MEFV gene was performed in a cohort of 593 patients. A total of 70 patients carried mutations in the homozygote or compound heterozygote state, 128 were identified with one MEFV mutation and 395 had no mutations. Of the 268 identified alleles, p.Val726Ala (27.61%) was the most frequent followed by p.Met694Val (19.40%). The missense mutations p.Arg761His (3.73%) and p.Ala744Ser (2.24%) were identified as the rarest. An interesting finding is the high frequency (18.28%) of the complex p.Phe479Leu-p.Glu167Asp that was identified in 49 of the mutated alleles. The MEFV genotypes did not follow a binomial distribution and proved not to satisfy the HWE (P < 0.001). The high percentage (66.61%) of patients with unidentified mutations could be due to mutations in the rest of the coding or noncoding MEFV gene or due to mutations in other genes that are also causing Hereditary Recurrent Fevers. Results from this work indicate the high incidence of FMF in Cyprus and describe the spectrum of the mutations which occur in the country.
AB - Familial Mediterranean fever (FMF) is caused by mutations in the MEFV gene and the spectrum of mutations among Greek-Cypriots with FMF-related symptoms was examined. Sequence analysis for exons 2, 3, 5, and 10 of the MEFV gene was performed in a cohort of 593 patients. A total of 70 patients carried mutations in the homozygote or compound heterozygote state, 128 were identified with one MEFV mutation and 395 had no mutations. Of the 268 identified alleles, p.Val726Ala (27.61%) was the most frequent followed by p.Met694Val (19.40%). The missense mutations p.Arg761His (3.73%) and p.Ala744Ser (2.24%) were identified as the rarest. An interesting finding is the high frequency (18.28%) of the complex p.Phe479Leu-p.Glu167Asp that was identified in 49 of the mutated alleles. The MEFV genotypes did not follow a binomial distribution and proved not to satisfy the HWE (P < 0.001). The high percentage (66.61%) of patients with unidentified mutations could be due to mutations in the rest of the coding or noncoding MEFV gene or due to mutations in other genes that are also causing Hereditary Recurrent Fevers. Results from this work indicate the high incidence of FMF in Cyprus and describe the spectrum of the mutations which occur in the country.
KW - Cyprus
KW - FMF
KW - Hereditary recurrent fevers
KW - MEFV
UR - http://www.scopus.com/inward/record.url?scp=84919625689&partnerID=8YFLogxK
U2 - 10.1111/ahg.12087
DO - 10.1111/ahg.12087
M3 - Article
C2 - 25393764
AN - SCOPUS:84919625689
SN - 0003-4800
VL - 79
SP - 20
EP - 27
JO - Annals of Human Genetics
JF - Annals of Human Genetics
IS - 1
ER -