Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations

Familial Mediterranean fever (FMF) is an autosomal recessive disease mostly frequent in Mediterranean populations. Over 50 mutations have been identified in the gene responsible for the disease, MEFV. The present study reports the frequencies of MEFV mutations in 558 Lebanese and 55 Jordanian FMF pa...

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Published inEuropean journal of medical genetics Vol. 48; no. 4; pp. 412 - 420
Main Authors Medlej-Hashim, Myrna, Serre, Jean-Louis, Corbani, Sandra, Saab, Odile, Jalkh, Nadine, Delague, Valérie, Chouery, Eliane, Salem, Nabiha, Loiselet, Jacques, Lefranc, Gérard, Mégarbané, André
Format Journal Article
LanguageEnglish
Published Amsterdam Elsevier Masson SAS 01.10.2005
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Abstract Familial Mediterranean fever (FMF) is an autosomal recessive disease mostly frequent in Mediterranean populations. Over 50 mutations have been identified in the gene responsible for the disease, MEFV. The present study reports the frequencies of MEFV mutations in 558 Lebanese and 55 Jordanian FMF patients and points out the severity of the M694V frequently observed mutation among these patients. Three novel mutations, T177I, S108R and E474K were also identified in the Lebanese group. An excess of homozygotes and a deficit of heterozygotes were observed in both samples when compared to the expected number of observed genotypes under the Hardy–Weinberg hypothesis. Homozygotes for M694V and M694I were still in excess in the Lebanese group of patients, even after consanguinous homozygotes were removed, or population structure was considered. This excess is therefore neither due to consanguinity nor to subgroups in the Lebanese population, but rather to more remote consanguinity or to a selection bias favoring the census of these genotypes. The fact that FMF female patients were less censed than male patients may be due to the greater resistance of females to pain and to the possibility of confusing abdominal and gynecological pain. The phenotypic heterogeneity of the FMF could then originate both from genetic causes like allelic heterogeneity or modulating genes, and cultural background facing the physiological consequences of genotypes at risk.
AbstractList Familial Mediterranean fever (FMF) is an autosomal recessive disease mostly frequent in Mediterranean populations. Over 50 mutations have been identified in the gene responsible for the disease, MEFV. The present study reports the frequencies of MEFV mutations in 558 Lebanese and 55 Jordanian FMF patients and points out the severity of the M694V frequently observed mutation among these patients. Three novel mutations, T177I, S108R and E474K were also identified in the Lebanese group. An excess of homozygotes and a deficit of heterozygotes were observed in both samples when compared to the expected number of observed genotypes under the Hardy–Weinberg hypothesis. Homozygotes for M694V and M694I were still in excess in the Lebanese group of patients, even after consanguinous homozygotes were removed, or population structure was considered. This excess is therefore neither due to consanguinity nor to subgroups in the Lebanese population, but rather to more remote consanguinity or to a selection bias favoring the census of these genotypes. The fact that FMF female patients were less censed than male patients may be due to the greater resistance of females to pain and to the possibility of confusing abdominal and gynecological pain. The phenotypic heterogeneity of the FMF could then originate both from genetic causes like allelic heterogeneity or modulating genes, and cultural background facing the physiological consequences of genotypes at risk.
Familial Mediterranean fever (FMF) is an autosomal recessive disease mostly frequent in Mediterranean populations. Over 50 mutations have been identified in the gene responsible for the disease, MEFV. The present study reports the frequencies of MEFV mutations in 558 Lebanese and 55 Jordanian FMF patients and points out the severity of the M694V frequently observed mutation among these patients. Three novel mutations, T177I, S108R and E474K were also identified in the Lebanese group. An excess of homozygotes and a deficit of heterozygotes were observed in both samples when compared to the expected number of observed genotypes under the Hardy-Weinberg hypothesis. Homozygotes for M694V and M694I were still in excess in the Lebanese group of patients, even after consanguinous homozygotes were removed, or population structure was considered. This excess is therefore neither due to consanguinity nor to subgroups in the Lebanese population, but rather to more remote consanguinity or to a selection bias favoring the census of these genotypes. The fact that FMF female patients were less censed than male patients may be due to the greater resistance of females to pain and to the possibility of confusing abdominal and gynecological pain. The phenotypic heterogeneity of the FMF could then originate both from genetic causes like allelic heterogeneity or modulating genes, and cultural background facing the physiological consequences of genotypes at risk.
Author Jalkh, Nadine
Chouery, Eliane
Salem, Nabiha
Loiselet, Jacques
Delague, Valérie
Medlej-Hashim, Myrna
Lefranc, Gérard
Corbani, Sandra
Saab, Odile
Mégarbané, André
Serre, Jean-Louis
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  surname: Lefranc
  fullname: Lefranc, Gérard
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  givenname: André
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  email: megarban@dm.net.lb
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Cites_doi 10.1001/archinte.1958.00260190052007
10.1093/nar/16.3.1215
10.1017/S0021932000021921
10.1002/art.11102
10.1093/hmg/7.10.1581
10.1016/S0092-8674(00)80539-5
10.1002/(SICI)1098-1004(200004)15:4<384::AID-HUMU19>3.0.CO;2-U
10.1016/S0378-5955(03)00346-0
10.1034/j.1399-0004.2002.10114.x
10.1038/ng0997-25
10.1086/302327
10.1136/ard.60.2.146
10.1073/pnas.86.8.2766
10.1038/85893
10.1002/humu.20080
10.1038/sj.ejhg.5200725
10.1002/ajmg.1320430502
10.1093/hmg/7.8.1317
10.1016/0002-9343(67)90167-2
10.2165/00129785-200404020-00005
10.1038/sj.ejhg.5200574
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Issue 4
Keywords Mutations
Severity
M694V
FMF
Genotypes
Hardy–Weinberg
Human
Typing
Diseases of the osteoarticular system
Genotype
Population genetics
Genetic disease
Hardy-Weinberg
Microbiological investigation
Familial recurrent polyseritis
Mutation
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References Bernot, da Silva, Petit, Cruaud, Caloustian, Castet, Ahmed-Arab, Dross, Dupont, Cattan, Smaoui, Dode, Pecheux, Nedelec, Medaxian, Rozenbaum, Rosner, Delpech, Grateau, Demaille, Weissenbach, Touitou (bib4) 1998; 7
Heller, Sohar, Sherf (bib9) 1958; 102
Aksentijevich, Torosyan, Samuels, Centola, Pras, Chae, Oddoux, Wood, Azzaro, Palumbo, Giustolisi, Pras, Ostrer, Kastner (bib1) 1999; 64
Orita, Iwahana, Kanazawa, Hayashi, Sekiya (bib18) 1989; 86
(bib8) 1997; 17
Touitou, Notarnicola, Grandemange (bib22) 2004; 4
(bib10) 1997; 90
Touitou, Lesage, McDermott, Cuisset, Hoffman, Dode, Shoham, Aganna, Hugot, Wise, Waterham, Pugnere, Demaille, Sarrauste de Menthiere (bib21) 2004; 24
Medlej-Hashim, Salem, Chouery, Rawashdeh, Delague, Haffar, Mansour, Naman, Lefranc, Loiselet, Mégarbané (bib16) 2002; 61
Cazeneuve, Hovannesyan, Genevieve, Hayrapetyan, Papin, Girodon-Boulandet, Boissier, Feingold, Atayan, Sarkisian, Amselem (bib6) 2003; 48
Centola, Aksentijevich, Kastner (bib7) 1998; 7
Khlat (bib11) 1988; 43
Sohar, Gafni, Pras, Heller (bib20) 1967; 43
Schaner, Richards, Wadhwa, Aksentijevich, Kastner, Tucker, Gumucio (bib19) 2001; 27
Khoury, Massad (bib12) 1998; 43
Ben-Chetrit, Backenroth (bib3) 2001; 60
Medlej-Hashim, Rawashdeh, Chouery, Mansour, Delague, Lefranc, Naman, Loiselet, Mégarbané (bib14) 2000; 15
Miller, Dynes, Polesky (bib17) 1988; 16
Al-Salem, Rawashdeh (bib2) 1993; 25
Bolz, Schade, Ehmer, Kothe, Hess, Gal (bib5) 2004; 188
Medlej-Hashim, Petit, Adib, Chouery, Salem, Delague, Rawashdeh, Mansour, Lefranc, Naman, Loiselet, Lecron, Serre, Mégarbané (bib15) 2001; 9
Mansour, Delague, Cazeneuve, Dodé, Chouery, Pêcheux, Medlej-Hashim, Salem, El Zein, Levan-Petit, Lefranc, Goossens, Delpech, Amselem, Loiselet, Grateau, Mégarbané, Naman (bib13) 2001; 9
Mansour (10.1016/j.ejmg.2005.05.010_bib13) 2001; 9
Touitou (10.1016/j.ejmg.2005.05.010_bib22) 2004; 4
Ben-Chetrit (10.1016/j.ejmg.2005.05.010_bib3) 2001; 60
Cazeneuve (10.1016/j.ejmg.2005.05.010_bib6) 2003; 48
(10.1016/j.ejmg.2005.05.010_bib8) 1997; 17
Medlej-Hashim (10.1016/j.ejmg.2005.05.010_bib16) 2002; 61
Bolz (10.1016/j.ejmg.2005.05.010_bib5) 2004; 188
Al-Salem (10.1016/j.ejmg.2005.05.010_bib2) 1993; 25
Aksentijevich (10.1016/j.ejmg.2005.05.010_bib1) 1999; 64
Khlat (10.1016/j.ejmg.2005.05.010_bib11) 1988; 43
Medlej-Hashim (10.1016/j.ejmg.2005.05.010_bib14) 2000; 15
Schaner (10.1016/j.ejmg.2005.05.010_bib19) 2001; 27
Khoury (10.1016/j.ejmg.2005.05.010_bib12) 1998; 43
Touitou (10.1016/j.ejmg.2005.05.010_bib21) 2004; 24
Bernot (10.1016/j.ejmg.2005.05.010_bib4) 1998; 7
Sohar (10.1016/j.ejmg.2005.05.010_bib20) 1967; 43
Miller (10.1016/j.ejmg.2005.05.010_bib17) 1988; 16
Medlej-Hashim (10.1016/j.ejmg.2005.05.010_bib15) 2001; 9
Heller (10.1016/j.ejmg.2005.05.010_bib9) 1958; 102
Centola (10.1016/j.ejmg.2005.05.010_bib7) 1998; 7
(10.1016/j.ejmg.2005.05.010_bib10) 1997; 90
Orita (10.1016/j.ejmg.2005.05.010_bib18) 1989; 86
References_xml – volume: 9
  start-page: 849
  year: 2001
  end-page: 854
  ident: bib15
  article-title: Familial Mediterranean Fever: association of elevated IgD plasma levels with specific MEFV mutations
  publication-title: Eur. J. Hum. Genet.
  contributor:
    fullname: Mégarbané
– volume: 16
  start-page: 1215
  year: 1988
  ident: bib17
  article-title: A simple salting out procedure for extracting DNA from human nucleated cells
  publication-title: Nucleic Acids Res.
  contributor:
    fullname: Polesky
– volume: 64
  start-page: 949
  year: 1999
  end-page: 962
  ident: bib1
  article-title: Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population
  publication-title: Am. J. Hum. Genet.
  contributor:
    fullname: Kastner
– volume: 90
  start-page: 797
  year: 1997
  end-page: 807
  ident: bib10
  article-title: Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever
  publication-title: Cell
– volume: 24
  start-page: 194
  year: 2004
  end-page: 198
  ident: bib21
  article-title: Infevers: an evolving mutation database for auto-inflammatory syndromes
  publication-title: Hum. Mutat.
  contributor:
    fullname: Sarrauste de Menthiere
– volume: 60
  start-page: 146
  year: 2001
  end-page: 149
  ident: bib3
  article-title: Amyloidosis induced, end-stage renal disease in patients with familial Mediterranean fever is highly associated with point mutations in the MEFV gene
  publication-title: Ann. Rheum. Dis.
  contributor:
    fullname: Backenroth
– volume: 43
  start-page: 227
  year: 1967
  end-page: 253
  ident: bib20
  article-title: Familial Mediterranean fever. A survey of 470 cases and review of the literature
  publication-title: Ann. J. Med.
  contributor:
    fullname: Heller
– volume: 4
  start-page: 109
  year: 2004
  end-page: 118
  ident: bib22
  article-title: Identifying mutations in autoinflammatory diseases: towards novel genetic tests and therapies?
  publication-title: Am. J. Pharmacogenomics
  contributor:
    fullname: Grandemange
– volume: 188
  start-page: 42
  year: 2004
  end-page: 46
  ident: bib5
  article-title: Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6
  publication-title: Hear. Res.
  contributor:
    fullname: Gal
– volume: 25
  start-page: 553
  year: 1993
  end-page: 556
  ident: bib2
  article-title: Consanguinity in North Jordan: prevalence and pattern
  publication-title: J. Biosoc. Sci.
  contributor:
    fullname: Rawashdeh
– volume: 102
  start-page: 50
  year: 1958
  end-page: 71
  ident: bib9
  article-title: Familial Mediterranean Fever
  publication-title: Arch. Intern. Med.
  contributor:
    fullname: Sherf
– volume: 61
  start-page: 71
  year: 2002
  end-page: 73
  ident: bib16
  article-title: Familial Mediterranean fever: the potential for misdiagnosis of E148V using the E148Q usual RFLP detection method
  publication-title: Clin. Genet.
  contributor:
    fullname: Mégarbané
– volume: 7
  start-page: 1317
  year: 1998
  end-page: 1325
  ident: bib4
  article-title: Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF)
  publication-title: Hum. Mol. Genet.
  contributor:
    fullname: Touitou
– volume: 15
  start-page: 384
  year: 2000
  ident: bib14
  article-title: Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patients
  publication-title: Hum. Mutat.
  contributor:
    fullname: Mégarbané
– volume: 43
  start-page: 188
  year: 1988
  end-page: 196
  ident: bib11
  article-title: Consanguineous marriage and reproduction in Beirut, Lebanon
  publication-title: Am. J. Hum. Genet.
  contributor:
    fullname: Khlat
– volume: 17
  start-page: 25
  year: 1997
  end-page: 31
  ident: bib8
  article-title: A candidate gene for familial Mediterranean fever
  publication-title: Nat. Genet.
– volume: 48
  start-page: 2324
  year: 2003
  end-page: 2331
  ident: bib6
  article-title: Familial Mediterranean fever among patients from Karabakh and the diagnostic value of
  publication-title: Arthritis Rheum.
  contributor:
    fullname: Amselem
– volume: 27
  start-page: 318
  year: 2001
  end-page: 321
  ident: bib19
  article-title: Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states
  publication-title: Nat. Genet.
  contributor:
    fullname: Gumucio
– volume: 86
  start-page: 2766
  year: 1989
  end-page: 2770
  ident: bib18
  article-title: Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
  publication-title: Proc. Natl. Acad. Sci. USA
  contributor:
    fullname: Sekiya
– volume: 43
  start-page: 769
  year: 1998
  end-page: 775
  ident: bib12
  article-title: Consanguineous marriage in Jordan
  publication-title: Am. J. Med. Genet.
  contributor:
    fullname: Massad
– volume: 7
  start-page: 1581
  year: 1998
  end-page: 1588
  ident: bib7
  article-title: The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases
  publication-title: Hum. Mol. Genet.
  contributor:
    fullname: Kastner
– volume: 9
  start-page: 51
  year: 2001
  end-page: 55
  ident: bib13
  article-title: Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations
  publication-title: Eur. J. Hum. Genet.
  contributor:
    fullname: Naman
– volume: 102
  start-page: 50
  year: 1958
  ident: 10.1016/j.ejmg.2005.05.010_bib9
  article-title: Familial Mediterranean Fever
  publication-title: Arch. Intern. Med.
  doi: 10.1001/archinte.1958.00260190052007
  contributor:
    fullname: Heller
– volume: 16
  start-page: 1215
  issue: 3
  year: 1988
  ident: 10.1016/j.ejmg.2005.05.010_bib17
  article-title: A simple salting out procedure for extracting DNA from human nucleated cells
  publication-title: Nucleic Acids Res.
  doi: 10.1093/nar/16.3.1215
  contributor:
    fullname: Miller
– volume: 25
  start-page: 553
  year: 1993
  ident: 10.1016/j.ejmg.2005.05.010_bib2
  article-title: Consanguinity in North Jordan: prevalence and pattern
  publication-title: J. Biosoc. Sci.
  doi: 10.1017/S0021932000021921
  contributor:
    fullname: Al-Salem
– volume: 48
  start-page: 2324
  issue: 8
  year: 2003
  ident: 10.1016/j.ejmg.2005.05.010_bib6
  article-title: Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populations
  publication-title: Arthritis Rheum.
  doi: 10.1002/art.11102
  contributor:
    fullname: Cazeneuve
– volume: 7
  start-page: 1581
  issue: 10
  year: 1998
  ident: 10.1016/j.ejmg.2005.05.010_bib7
  article-title: The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases
  publication-title: Hum. Mol. Genet.
  doi: 10.1093/hmg/7.10.1581
  contributor:
    fullname: Centola
– volume: 90
  start-page: 797
  year: 1997
  ident: 10.1016/j.ejmg.2005.05.010_bib10
  article-title: Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever
  publication-title: Cell
  doi: 10.1016/S0092-8674(00)80539-5
– volume: 15
  start-page: 384
  issue: 4
  year: 2000
  ident: 10.1016/j.ejmg.2005.05.010_bib14
  article-title: Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patients
  publication-title: Hum. Mutat.
  doi: 10.1002/(SICI)1098-1004(200004)15:4<384::AID-HUMU19>3.0.CO;2-U
  contributor:
    fullname: Medlej-Hashim
– volume: 188
  start-page: 42
  issue: 1–2
  year: 2004
  ident: 10.1016/j.ejmg.2005.05.010_bib5
  article-title: Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6
  publication-title: Hear. Res.
  doi: 10.1016/S0378-5955(03)00346-0
  contributor:
    fullname: Bolz
– volume: 61
  start-page: 71
  year: 2002
  ident: 10.1016/j.ejmg.2005.05.010_bib16
  article-title: Familial Mediterranean fever: the potential for misdiagnosis of E148V using the E148Q usual RFLP detection method
  publication-title: Clin. Genet.
  doi: 10.1034/j.1399-0004.2002.10114.x
  contributor:
    fullname: Medlej-Hashim
– volume: 17
  start-page: 25
  year: 1997
  ident: 10.1016/j.ejmg.2005.05.010_bib8
  article-title: A candidate gene for familial Mediterranean fever
  publication-title: Nat. Genet.
  doi: 10.1038/ng0997-25
– volume: 64
  start-page: 949
  year: 1999
  ident: 10.1016/j.ejmg.2005.05.010_bib1
  article-title: Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population
  publication-title: Am. J. Hum. Genet.
  doi: 10.1086/302327
  contributor:
    fullname: Aksentijevich
– volume: 60
  start-page: 146
  issue: 2
  year: 2001
  ident: 10.1016/j.ejmg.2005.05.010_bib3
  article-title: Amyloidosis induced, end-stage renal disease in patients with familial Mediterranean fever is highly associated with point mutations in the MEFV gene
  publication-title: Ann. Rheum. Dis.
  doi: 10.1136/ard.60.2.146
  contributor:
    fullname: Ben-Chetrit
– volume: 86
  start-page: 2766
  year: 1989
  ident: 10.1016/j.ejmg.2005.05.010_bib18
  article-title: Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
  publication-title: Proc. Natl. Acad. Sci. USA
  doi: 10.1073/pnas.86.8.2766
  contributor:
    fullname: Orita
– volume: 27
  start-page: 318
  issue: 3
  year: 2001
  ident: 10.1016/j.ejmg.2005.05.010_bib19
  article-title: Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states
  publication-title: Nat. Genet.
  doi: 10.1038/85893
  contributor:
    fullname: Schaner
– volume: 43
  start-page: 188
  year: 1988
  ident: 10.1016/j.ejmg.2005.05.010_bib11
  article-title: Consanguineous marriage and reproduction in Beirut, Lebanon
  publication-title: Am. J. Hum. Genet.
  contributor:
    fullname: Khlat
– volume: 24
  start-page: 194
  issue: 3
  year: 2004
  ident: 10.1016/j.ejmg.2005.05.010_bib21
  article-title: Infevers: an evolving mutation database for auto-inflammatory syndromes
  publication-title: Hum. Mutat.
  doi: 10.1002/humu.20080
  contributor:
    fullname: Touitou
– volume: 9
  start-page: 849
  year: 2001
  ident: 10.1016/j.ejmg.2005.05.010_bib15
  article-title: Familial Mediterranean Fever: association of elevated IgD plasma levels with specific MEFV mutations
  publication-title: Eur. J. Hum. Genet.
  doi: 10.1038/sj.ejhg.5200725
  contributor:
    fullname: Medlej-Hashim
– volume: 43
  start-page: 769
  year: 1998
  ident: 10.1016/j.ejmg.2005.05.010_bib12
  article-title: Consanguineous marriage in Jordan
  publication-title: Am. J. Med. Genet.
  doi: 10.1002/ajmg.1320430502
  contributor:
    fullname: Khoury
– volume: 7
  start-page: 1317
  issue: 8
  year: 1998
  ident: 10.1016/j.ejmg.2005.05.010_bib4
  article-title: Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF)
  publication-title: Hum. Mol. Genet.
  doi: 10.1093/hmg/7.8.1317
  contributor:
    fullname: Bernot
– volume: 43
  start-page: 227
  year: 1967
  ident: 10.1016/j.ejmg.2005.05.010_bib20
  article-title: Familial Mediterranean fever. A survey of 470 cases and review of the literature
  publication-title: Ann. J. Med.
  doi: 10.1016/0002-9343(67)90167-2
  contributor:
    fullname: Sohar
– volume: 4
  start-page: 109
  issue: 2
  year: 2004
  ident: 10.1016/j.ejmg.2005.05.010_bib22
  article-title: Identifying mutations in autoinflammatory diseases: towards novel genetic tests and therapies?
  publication-title: Am. J. Pharmacogenomics
  doi: 10.2165/00129785-200404020-00005
  contributor:
    fullname: Touitou
– volume: 9
  start-page: 51
  year: 2001
  ident: 10.1016/j.ejmg.2005.05.010_bib13
  article-title: Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations
  publication-title: Eur. J. Hum. Genet.
  doi: 10.1038/sj.ejhg.5200574
  contributor:
    fullname: Mansour
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Snippet Familial Mediterranean fever (FMF) is an autosomal recessive disease mostly frequent in Mediterranean populations. Over 50 mutations have been identified in...
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SubjectTerms Biological and medical sciences
Consanguinity
Cytoskeletal Proteins - genetics
Diseases of the osteoarticular system
Familial Mediterranean Fever - epidemiology
Familial Mediterranean Fever - genetics
Female
FMF
Fundamental and applied biological sciences. Psychology
General aspects. Genetic counseling
Genetic Variation
Genetics of eukaryotes. Biological and molecular evolution
Genetics, Population
Genotype
Genotypes
Hardy–Weinberg
Heterozygote
Homozygote
Human
Humans
Inflammatory joint diseases
Jordan - epidemiology
Lebanon - epidemiology
M694V
Male
Medical genetics
Medical sciences
Molecular and cellular biology
Mutation - genetics
Mutations
Phenotype
Population genetics, reproduction patterns
Pyrin
Severity
Title Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations
URI https://dx.doi.org/10.1016/j.ejmg.2005.05.010
https://www.ncbi.nlm.nih.gov/pubmed/16378925
https://search.proquest.com/docview/69039636
Volume 48
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