MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever

被引：169

作者：

Livneh, A

Langevitz, P

Shinar, Y

Zaks, N

Kastner, DL

Pras, M

Pras, E ^{[1
]}

机构：

[1] Chaim Sheba Med Ctr, Inst Human Genet, IL-62521 Tel Hashomer, Israel

[2] Chaim Sheba Med Ctr, Heller Inst Med Res, IL-62521 Tel Hashomer, Israel

[3] Chaim Sheba Med Ctr, Dept Med F, IL-62521 Tel Hashomer, Israel

[4] Chaim Sheba Med Ctr, Dept Med C, IL-62521 Tel Hashomer, Israel

[5] NIAMSD, Genet Sect, NIH, Bethesda, MD 20892 USA

来源：

AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION | 1999年 / 6卷 / 01期

关键词：

amyloidosis; FMF; pyrin; colchicine;

D O I：

10.3109/13506129908993281

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 [生物化学与分子生物学]; 081704 [应用化学];

摘要：

Familial Mediterranean fever (FMF) is a major cause of AA amyloidosis. Recently, the gene (MEFV) causing this disease was cloned and 16 disease associated mutations have been described. We have analyzed 178 FMF;patients, 30 of whom also suffered from amyloidosis, for 4 mutations in MEFV. Mutations were identified in 29 of the FMF amyloidosis patients. 27 FMF amyloidosis patients were homozygous for M694V. One patient was found to be homozygous for both V726A and E148Q in another patient E148Q and V726A were found on one allele, while V726A was found on the second allele. Amyloidosis was far more common among patients homozygous for M694V compared to patients with other mutations (P<0.0001). In 3 patients homozygous for M694V, amyloidosis was the sole manifestation of the disease.

引用

页码：1 / 6

页数：6

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