Abstract
Famalial Mediterranean fever (FMF) is an autosomal recessive disease. It is characterized by recurrent febrile episodes in association with peritonitis, pleuritis, and arthritis. Progressive systemic amyloidosis is the most important complication of FMF that inevitably leads to chronic renal failure. Recently, the gene for FMF, MEFV, has been cloned and four missense mutations have been described: M694V, M680I, V726A, and M694I. Initial studies have suggested that the presence of the M694V mutation carries a significant risk for the development of amyloidosis. In this study, we present seven families, in which at least two individuals have been diagnosed with FMF and at least one with amyloidosis. Among 18 individuals, in whom molecular testing was performed for the four aforementioned mutations, ten had amyloidosis. None of these ten individuals was found to be homozygous for the M694V mutation. In three families, there were two sibs with amyloidosis. None of the sib-pairs with amyloidosis was found to have the same genotype. There were two or more sibs with the same genotype in four families. Only one sib from each family developed amyloidosis in these families. These results provide evidence that FMF patients without the M694V mutation are also at risk for the development of amyloidosis, Particular mutations themselves do not appear to be sufficient to explain the occurrence of amyloidosis in all cases with FMF.
| Original language | English |
|---|---|
| Pages (from-to) | 430-434 |
| Number of pages | 5 |
| Journal | Clinical Genetics |
| Volume | 57 |
| Issue number | 6 |
| DOIs | |
| State | Published - Jun 27 2000 |
| Externally published | Yes |
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Keywords
- Amyloidosis
- FMF
- MEFV mutations
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
MEFV mutations in multiplex families with familial Mediterranean fever : Is a particular genotype necessary for amyloidosis? / Tekin, Mustafa; Yalçinkaya, Fatoş; Çakar, Nilgün; Akar, Nejat; Misirlioǧlu, Müge; Taştan, Hakki; Tümer, Necmiye.
In: Clinical Genetics, Vol. 57, No. 6, 27.06.2000, p. 430-434.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - MEFV mutations in multiplex families with familial Mediterranean fever
T2 - Is a particular genotype necessary for amyloidosis?
AU - Tekin, Mustafa
AU - Yalçinkaya, Fatoş
AU - Çakar, Nilgün
AU - Akar, Nejat
AU - Misirlioǧlu, Müge
AU - Taştan, Hakki
AU - Tümer, Necmiye
PY - 2000/6/27
Y1 - 2000/6/27
N2 - Famalial Mediterranean fever (FMF) is an autosomal recessive disease. It is characterized by recurrent febrile episodes in association with peritonitis, pleuritis, and arthritis. Progressive systemic amyloidosis is the most important complication of FMF that inevitably leads to chronic renal failure. Recently, the gene for FMF, MEFV, has been cloned and four missense mutations have been described: M694V, M680I, V726A, and M694I. Initial studies have suggested that the presence of the M694V mutation carries a significant risk for the development of amyloidosis. In this study, we present seven families, in which at least two individuals have been diagnosed with FMF and at least one with amyloidosis. Among 18 individuals, in whom molecular testing was performed for the four aforementioned mutations, ten had amyloidosis. None of these ten individuals was found to be homozygous for the M694V mutation. In three families, there were two sibs with amyloidosis. None of the sib-pairs with amyloidosis was found to have the same genotype. There were two or more sibs with the same genotype in four families. Only one sib from each family developed amyloidosis in these families. These results provide evidence that FMF patients without the M694V mutation are also at risk for the development of amyloidosis, Particular mutations themselves do not appear to be sufficient to explain the occurrence of amyloidosis in all cases with FMF.
AB - Famalial Mediterranean fever (FMF) is an autosomal recessive disease. It is characterized by recurrent febrile episodes in association with peritonitis, pleuritis, and arthritis. Progressive systemic amyloidosis is the most important complication of FMF that inevitably leads to chronic renal failure. Recently, the gene for FMF, MEFV, has been cloned and four missense mutations have been described: M694V, M680I, V726A, and M694I. Initial studies have suggested that the presence of the M694V mutation carries a significant risk for the development of amyloidosis. In this study, we present seven families, in which at least two individuals have been diagnosed with FMF and at least one with amyloidosis. Among 18 individuals, in whom molecular testing was performed for the four aforementioned mutations, ten had amyloidosis. None of these ten individuals was found to be homozygous for the M694V mutation. In three families, there were two sibs with amyloidosis. None of the sib-pairs with amyloidosis was found to have the same genotype. There were two or more sibs with the same genotype in four families. Only one sib from each family developed amyloidosis in these families. These results provide evidence that FMF patients without the M694V mutation are also at risk for the development of amyloidosis, Particular mutations themselves do not appear to be sufficient to explain the occurrence of amyloidosis in all cases with FMF.
KW - Amyloidosis
KW - FMF
KW - MEFV mutations
UR - http://www.scopus.com/inward/record.url?scp=0342859346&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0342859346&partnerID=8YFLogxK
U2 - 10.1034/j.1399-0004.2000.570605.x
DO - 10.1034/j.1399-0004.2000.570605.x
M3 - Article
VL - 57
SP - 430
EP - 434
JO - Clinical Genetics
JF - Clinical Genetics
SN - 0009-9163
IS - 6
ER -