MEFV mutations in multiplex families with familial Mediterranean fever

Is a particular genotype necessary for amyloidosis?

Mustafa Tekin, Fatoş Yalçinkaya, Nilgün Çakar, Nejat Akar, Müge Misirlioǧlu, Hakki Taştan, Necmiye Tümer

Research output: Contribution to journalArticle

36 Citations (Scopus)

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 languageEnglish
Pages (from-to)430-434
Number of pages5
JournalClinical Genetics
Volume57
Issue number6
DOIs
StatePublished - Jun 27 2000
Externally publishedYes

Fingerprint

Familial Mediterranean Fever
Amyloidosis
Genotype
Fever
Mutation
Pleurisy
Missense Mutation
Peritonitis
Chronic Kidney Failure
Arthritis

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 journalArticle

Tekin, Mustafa ; Yalçinkaya, Fatoş ; Çakar, Nilgün ; Akar, Nejat ; Misirlioǧlu, Müge ; Taştan, Hakki ; Tümer, Necmiye. / MEFV mutations in multiplex families with familial Mediterranean fever : Is a particular genotype necessary for amyloidosis?. In: Clinical Genetics. 2000 ; Vol. 57, No. 6. pp. 430-434.
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