Mediterranean Founder Mutation Database (MFMD)

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Last update
21/6/2017

Phenotype: Familial Mediterranean fever


OMIM: 249100
Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease

Related informations: Orphanet    Gene Tests    Clinical Synopsis    Clinical Trials

MEFV || c.2040G>C

Gene/Locus:    MEFV
Dna Change:    c.2040G>C
Protein Change:    p.Met680Ile
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 10
Transcript:    NM_000243.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
EgyptNANA29.4% (40/136)NAel-Garf A et al., 2010el-Garf A, Salah S, Iskander I, Salah H, Amin SN, . MEFV mutations in Egyptian patients suffering from familial Mediterranean fever: analysis of 12 gene mutations.. Rheumatol. Int.. 2010; 30(10):1293-8
LebanonNANA5.72%23000 years agoJalkh N et al., 2008Jalkh N, Génin E, Chouery E, Delague V, Medlej-Hashim M, Idrac CA, Mégarbané A, Serre JL, . Familial Mediterranean Fever in Lebanon: founder effects for different MEFV mutations.. Ann. Hum. Genet.. 2008; 72(0):41-7
SyriaNANA9.6% (allele frequency)NAMattit H et al., 2006Mattit H, Joma M, Al-Cheikh S, El-Khateeb M, Medlej-Hashim M, Salem N, Delague V, Mégarbané A, . Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation.. Eur J Med Genet. 2006; 49(6):481-6
TunisiaNANA32% (allele frequency)NAChaabouni HB et al., 2007Chaabouni HB, Ksantini M, M'rad R, Kharrat M, Chaabouni M, Maazoul F, Bahloul Z, Ben Jemaa L, Ben Moussa F, Ben Chaabane T, Mrad S, Touitou I, Smaoui N, . MEFV mutations in Tunisian patients suffering from familial Mediterranean fever.. Semin. Arthritis Rheum.. 2007; 36(6):397-401

MEFV || c.2080A>G

Gene/Locus:    MEFV
Dna Change:    c.2080A>G
Protein Change:    p.Met694Val
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 10
Transcript:    NM_000243.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
EgyptNANA32.4% (44/136)NAel-Garf A et al., 2010el-Garf A, Salah S, Iskander I, Salah H, Amin SN, . MEFV mutations in Egyptian patients suffering from familial Mediterranean fever: analysis of 12 gene mutations.. Rheumatol. Int.. 2010; 30(10):1293-8
LebanonNANA28.98%7000 years agoJalkh N et al., 2008Jalkh N, Génin E, Chouery E, Delague V, Medlej-Hashim M, Idrac CA, Mégarbané A, Serre JL, . Familial Mediterranean Fever in Lebanon: founder effects for different MEFV mutations.. Ann. Hum. Genet.. 2008; 72(0):41-7
SyriaNANA45.8% (allele frequency)NAMattit H et al., 2006Mattit H, Joma M, Al-Cheikh S, El-Khateeb M, Medlej-Hashim M, Salem N, Delague V, Mégarbané A, . Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation.. Eur J Med Genet. 2006; 49(6):481-6
TunisiaNANA27% (allele frequency)NAChaabouni HB et al., 2007Chaabouni HB, Ksantini M, M'rad R, Kharrat M, Chaabouni M, Maazoul F, Bahloul Z, Ben Jemaa L, Ben Moussa F, Ben Chaabane T, Mrad S, Touitou I, Smaoui N, . MEFV mutations in Tunisian patients suffering from familial Mediterranean fever.. Semin. Arthritis Rheum.. 2007; 36(6):397-401

MEFV || c.2082G>A

Gene/Locus:    MEFV
Dna Change:    c.2082G>A
Protein Change:    p.Met694Ile
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 10
Transcript:    NM_000243.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
EgyptNANA20.6% (28/136)NAel-Garf A et al., 2010el-Garf A, Salah S, Iskander I, Salah H, Amin SN, . MEFV mutations in Egyptian patients suffering from familial Mediterranean fever: analysis of 12 gene mutations.. Rheumatol. Int.. 2010; 30(10):1293-8
LebanonNANA12.10%8500 years agoJalkh N et al., 2008Jalkh N, Génin E, Chouery E, Delague V, Medlej-Hashim M, Idrac CA, Mégarbané A, Serre JL, . Familial Mediterranean Fever in Lebanon: founder effects for different MEFV mutations.. Ann. Hum. Genet.. 2008; 72(0):41-7
LebanonNANA20 patients/ 31 patientsNAMedlej-Hashim M et al., 2011Medlej-Hashim M, Chouery E, Salem N, Delague V, Lefranc G, Loiselet J, Mégarbané A, . Familial Mediterranean fever in a large Lebanese family: multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation.. Eur J Med Genet. 2011; 54(1):50-4
SyriaNANA4.8% (allele frequency)NAMattit H et al., 2006Mattit H, Joma M, Al-Cheikh S, El-Khateeb M, Medlej-Hashim M, Salem N, Delague V, Mégarbané A, . Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation.. Eur J Med Genet. 2006; 49(6):481-6
TunisiaNANA13% (allele frequency)NAChaabouni HB et al., 2007Chaabouni HB, Ksantini M, M'rad R, Kharrat M, Chaabouni M, Maazoul F, Bahloul Z, Ben Jemaa L, Ben Moussa F, Ben Chaabane T, Mrad S, Touitou I, Smaoui N, . MEFV mutations in Tunisian patients suffering from familial Mediterranean fever.. Semin. Arthritis Rheum.. 2007; 36(6):397-401

MEFV || c.2177T>C

Gene/Locus:    MEFV
Dna Change:    c.2177T>C
Protein Change:    p.Val726Ala
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 10
Transcript:    NM_000243.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
EgyptNANA41.2% (56/136)NAel-Garf A et al., 2010el-Garf A, Salah S, Iskander I, Salah H, Amin SN, . MEFV mutations in Egyptian patients suffering from familial Mediterranean fever: analysis of 12 gene mutations.. Rheumatol. Int.. 2010; 30(10):1293-8
LebanonNANA19.28%15000 years agoJalkh N et al., 2008Jalkh N, Génin E, Chouery E, Delague V, Medlej-Hashim M, Idrac CA, Mégarbané A, Serre JL, . Familial Mediterranean Fever in Lebanon: founder effects for different MEFV mutations.. Ann. Hum. Genet.. 2008; 72(0):41-7
SyriaNANA13.9% (allele frequency)NAMattit H et al., 2006Mattit H, Joma M, Al-Cheikh S, El-Khateeb M, Medlej-Hashim M, Salem N, Delague V, Mégarbané A, . Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation.. Eur J Med Genet. 2006; 49(6):481-6
TunisiaNANA5% (allele frequency)NAChaabouni HB et al., 2007Chaabouni HB, Ksantini M, M'rad R, Kharrat M, Chaabouni M, Maazoul F, Bahloul Z, Ben Jemaa L, Ben Moussa F, Ben Chaabane T, Mrad S, Touitou I, Smaoui N, . MEFV mutations in Tunisian patients suffering from familial Mediterranean fever.. Semin. Arthritis Rheum.. 2007; 36(6):397-401

MEFV || c.442G>C

Gene/Locus:    MEFV
Dna Change:    c.442G>C
Protein Change:    p.Glu148Gln
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 2
Transcript:    NM_000243.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
EgyptNANA25% (34/136)NAel-Garf A et al., 2010el-Garf A, Salah S, Iskander I, Salah H, Amin SN, . MEFV mutations in Egyptian patients suffering from familial Mediterranean fever: analysis of 12 gene mutations.. Rheumatol. Int.. 2010; 30(10):1293-8
LebanonNANA10.10%30000 years agoJalkh N et al., 2008Jalkh N, Génin E, Chouery E, Delague V, Medlej-Hashim M, Idrac CA, Mégarbané A, Serre JL, . Familial Mediterranean Fever in Lebanon: founder effects for different MEFV mutations.. Ann. Hum. Genet.. 2008; 72(0):41-7
SyriaNANA6.0% (allele frequency)NAMattit H et al., 2006Mattit H, Joma M, Al-Cheikh S, El-Khateeb M, Medlej-Hashim M, Salem N, Delague V, Mégarbané A, . Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation.. Eur J Med Genet. 2006; 49(6):481-6
TunisiaNANA18% (allele frequency)NAChaabouni HB et al., 2007Chaabouni HB, Ksantini M, M'rad R, Kharrat M, Chaabouni M, Maazoul F, Bahloul Z, Ben Jemaa L, Ben Moussa F, Ben Chaabane T, Mrad S, Touitou I, Smaoui N, . MEFV mutations in Tunisian patients suffering from familial Mediterranean fever.. Semin. Arthritis Rheum.. 2007; 36(6):397-401

References

Chaabouni HB, Ksantini M, M'rad R, Kharrat M, Chaabouni M, Maazoul F, Bahloul Z, Ben Jemaa L, Ben Moussa F, Ben Chaabane T, Mrad S, Touitou I, Smaoui N, MEFV mutations in Tunisian patients suffering from familial Mediterranean fever.Semin. Arthritis Rheum.. 2007; 36(6):397-401

el-Garf A, Salah S, Iskander I, Salah H, Amin SN, MEFV mutations in Egyptian patients suffering from familial Mediterranean fever: analysis of 12 gene mutations.Rheumatol. Int.. 2010; 30(10):1293-8

Jalkh N, Génin E, Chouery E, Delague V, Medlej-Hashim M, Idrac CA, Mégarbané A, Serre JL, Familial Mediterranean Fever in Lebanon: founder effects for different MEFV mutations.Ann. Hum. Genet.. 2008; 72(0):41-7

Mattit H, Joma M, Al-Cheikh S, El-Khateeb M, Medlej-Hashim M, Salem N, Delague V, Mégarbané A, Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation.Eur J Med Genet. 2006; 49(6):481-6

Medlej-Hashim M, Chouery E, Salem N, Delague V, Lefranc G, Loiselet J, Mégarbané A, Familial Mediterranean fever in a large Lebanese family: multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation.Eur J Med Genet. 2011; 54(1):50-4

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