MEFV mutation analysis of familial Mediterranean fever in Japan

Nozomi Tomiyama, Yusushi Higashiuesato, Takaya Oda, Eishi Baba, Mine Harada, Momoyo Azuma, Tomoko Yamashita, Kazuhiro Uehara, Akiko Miyazato, Kazuhiro Hatta, Yuzuke Ohya, Kunitoshi Iseki, Yoshihiro Jinno, Shuichi Takishita

研究成果: ジャーナルへの寄稿記事

37 引用 (Scopus)

抄録

Background: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of fever with serosal inflammation. FMF gene (MEFV) mutations have been identified primarily in patients from Mediterranean populations. Although several clinical cases have been reported in Japan, there have been few reports to date on mutation analysis. We studied FMF patients and their relatives to examine the clinical and genetic features of this disease in the Japanese population. Methods: Twelve Japanese FMF patients who met the Tel Hashomer criteria and a total of 17 relatives from 5 of 10 families underwent molecular genetic studies to detect MEFV mutations. The characteristics of these Japanese FMF patients and geno-phenotypical correlations were examined. Results: Almost all of our patients had been suffering for a long time from fever of unknown origin and one patient also had systemic amyloidosis. In our 12 FMF patients, we detected the substitutions E84K, L110P, E148Q, R761H and M694I. We also newly diagnosed 2 relatives as having FMF based on clinical symptoms and the existence of FMF mutations. One patient was homozygous for E148Q, the patient with systemic amyloidosis was a homozygote for M694I and 4 patients from 3 families were compound heterozygotes for E148Q and M694I. Three patients in one family were compound heterozygotes for E148Q, L110P and M694I. There were 3 patients who were heterozygous for E84K, L110P-E148Q or M694I and had no other nucleotide changes in the exons of MEFV. On the other hand, 2 relatives who had never experienced symptoms of FMF were homozygous for L110P-E148Q as well as compound heterozygous for E148Q/ E148Q-R761H. E148Q and M694I were the most frequently detected substitutions in our study. Conclusions: MEFV mutations occur in Japanese FMF patients though FMF is rare in Japan. The identification of MEFV mutations could be a reliable diagnostic test for FMF. The results of genetic analyses on 14 Japanese FMF patients in this study revealed that E148Q and M694I are frequent alleles.

元の言語英語
ページ(範囲)13-17
ページ数5
ジャーナルClinical and experimental rheumatology
26
発行部数1
出版物ステータス出版済み - 1 1 2008

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Familial Mediterranean Fever
Japan
Mutation
Amyloidosis
Heterozygote
Fever of Unknown Origin
Inborn Genetic Diseases
Homozygote
Routine Diagnostic Tests

All Science Journal Classification (ASJC) codes

  • Rheumatology
  • Immunology and Allergy
  • Immunology

これを引用

Tomiyama, N., Higashiuesato, Y., Oda, T., Baba, E., Harada, M., Azuma, M., ... Takishita, S. (2008). MEFV mutation analysis of familial Mediterranean fever in Japan. Clinical and experimental rheumatology, 26(1), 13-17.

MEFV mutation analysis of familial Mediterranean fever in Japan. / Tomiyama, Nozomi; Higashiuesato, Yusushi; Oda, Takaya; Baba, Eishi; Harada, Mine; Azuma, Momoyo; Yamashita, Tomoko; Uehara, Kazuhiro; Miyazato, Akiko; Hatta, Kazuhiro; Ohya, Yuzuke; Iseki, Kunitoshi; Jinno, Yoshihiro; Takishita, Shuichi.

:: Clinical and experimental rheumatology, 巻 26, 番号 1, 01.01.2008, p. 13-17.

研究成果: ジャーナルへの寄稿記事

Tomiyama, N, Higashiuesato, Y, Oda, T, Baba, E, Harada, M, Azuma, M, Yamashita, T, Uehara, K, Miyazato, A, Hatta, K, Ohya, Y, Iseki, K, Jinno, Y & Takishita, S 2008, 'MEFV mutation analysis of familial Mediterranean fever in Japan', Clinical and experimental rheumatology, 巻. 26, 番号 1, pp. 13-17.
Tomiyama N, Higashiuesato Y, Oda T, Baba E, Harada M, Azuma M その他. MEFV mutation analysis of familial Mediterranean fever in Japan. Clinical and experimental rheumatology. 2008 1 1;26(1):13-17.
Tomiyama, Nozomi ; Higashiuesato, Yusushi ; Oda, Takaya ; Baba, Eishi ; Harada, Mine ; Azuma, Momoyo ; Yamashita, Tomoko ; Uehara, Kazuhiro ; Miyazato, Akiko ; Hatta, Kazuhiro ; Ohya, Yuzuke ; Iseki, Kunitoshi ; Jinno, Yoshihiro ; Takishita, Shuichi. / MEFV mutation analysis of familial Mediterranean fever in Japan. :: Clinical and experimental rheumatology. 2008 ; 巻 26, 番号 1. pp. 13-17.
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title = "MEFV mutation analysis of familial Mediterranean fever in Japan",
abstract = "Background: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of fever with serosal inflammation. FMF gene (MEFV) mutations have been identified primarily in patients from Mediterranean populations. Although several clinical cases have been reported in Japan, there have been few reports to date on mutation analysis. We studied FMF patients and their relatives to examine the clinical and genetic features of this disease in the Japanese population. Methods: Twelve Japanese FMF patients who met the Tel Hashomer criteria and a total of 17 relatives from 5 of 10 families underwent molecular genetic studies to detect MEFV mutations. The characteristics of these Japanese FMF patients and geno-phenotypical correlations were examined. Results: Almost all of our patients had been suffering for a long time from fever of unknown origin and one patient also had systemic amyloidosis. In our 12 FMF patients, we detected the substitutions E84K, L110P, E148Q, R761H and M694I. We also newly diagnosed 2 relatives as having FMF based on clinical symptoms and the existence of FMF mutations. One patient was homozygous for E148Q, the patient with systemic amyloidosis was a homozygote for M694I and 4 patients from 3 families were compound heterozygotes for E148Q and M694I. Three patients in one family were compound heterozygotes for E148Q, L110P and M694I. There were 3 patients who were heterozygous for E84K, L110P-E148Q or M694I and had no other nucleotide changes in the exons of MEFV. On the other hand, 2 relatives who had never experienced symptoms of FMF were homozygous for L110P-E148Q as well as compound heterozygous for E148Q/ E148Q-R761H. E148Q and M694I were the most frequently detected substitutions in our study. Conclusions: MEFV mutations occur in Japanese FMF patients though FMF is rare in Japan. The identification of MEFV mutations could be a reliable diagnostic test for FMF. The results of genetic analyses on 14 Japanese FMF patients in this study revealed that E148Q and M694I are frequent alleles.",
author = "Nozomi Tomiyama and Yusushi Higashiuesato and Takaya Oda and Eishi Baba and Mine Harada and Momoyo Azuma and Tomoko Yamashita and Kazuhiro Uehara and Akiko Miyazato and Kazuhiro Hatta and Yuzuke Ohya and Kunitoshi Iseki and Yoshihiro Jinno and Shuichi Takishita",
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T1 - MEFV mutation analysis of familial Mediterranean fever in Japan

AU - Tomiyama, Nozomi

AU - Higashiuesato, Yusushi

AU - Oda, Takaya

AU - Baba, Eishi

AU - Harada, Mine

AU - Azuma, Momoyo

AU - Yamashita, Tomoko

AU - Uehara, Kazuhiro

AU - Miyazato, Akiko

AU - Hatta, Kazuhiro

AU - Ohya, Yuzuke

AU - Iseki, Kunitoshi

AU - Jinno, Yoshihiro

AU - Takishita, Shuichi

PY - 2008/1/1

Y1 - 2008/1/1

N2 - Background: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of fever with serosal inflammation. FMF gene (MEFV) mutations have been identified primarily in patients from Mediterranean populations. Although several clinical cases have been reported in Japan, there have been few reports to date on mutation analysis. We studied FMF patients and their relatives to examine the clinical and genetic features of this disease in the Japanese population. Methods: Twelve Japanese FMF patients who met the Tel Hashomer criteria and a total of 17 relatives from 5 of 10 families underwent molecular genetic studies to detect MEFV mutations. The characteristics of these Japanese FMF patients and geno-phenotypical correlations were examined. Results: Almost all of our patients had been suffering for a long time from fever of unknown origin and one patient also had systemic amyloidosis. In our 12 FMF patients, we detected the substitutions E84K, L110P, E148Q, R761H and M694I. We also newly diagnosed 2 relatives as having FMF based on clinical symptoms and the existence of FMF mutations. One patient was homozygous for E148Q, the patient with systemic amyloidosis was a homozygote for M694I and 4 patients from 3 families were compound heterozygotes for E148Q and M694I. Three patients in one family were compound heterozygotes for E148Q, L110P and M694I. There were 3 patients who were heterozygous for E84K, L110P-E148Q or M694I and had no other nucleotide changes in the exons of MEFV. On the other hand, 2 relatives who had never experienced symptoms of FMF were homozygous for L110P-E148Q as well as compound heterozygous for E148Q/ E148Q-R761H. E148Q and M694I were the most frequently detected substitutions in our study. Conclusions: MEFV mutations occur in Japanese FMF patients though FMF is rare in Japan. The identification of MEFV mutations could be a reliable diagnostic test for FMF. The results of genetic analyses on 14 Japanese FMF patients in this study revealed that E148Q and M694I are frequent alleles.

AB - Background: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of fever with serosal inflammation. FMF gene (MEFV) mutations have been identified primarily in patients from Mediterranean populations. Although several clinical cases have been reported in Japan, there have been few reports to date on mutation analysis. We studied FMF patients and their relatives to examine the clinical and genetic features of this disease in the Japanese population. Methods: Twelve Japanese FMF patients who met the Tel Hashomer criteria and a total of 17 relatives from 5 of 10 families underwent molecular genetic studies to detect MEFV mutations. The characteristics of these Japanese FMF patients and geno-phenotypical correlations were examined. Results: Almost all of our patients had been suffering for a long time from fever of unknown origin and one patient also had systemic amyloidosis. In our 12 FMF patients, we detected the substitutions E84K, L110P, E148Q, R761H and M694I. We also newly diagnosed 2 relatives as having FMF based on clinical symptoms and the existence of FMF mutations. One patient was homozygous for E148Q, the patient with systemic amyloidosis was a homozygote for M694I and 4 patients from 3 families were compound heterozygotes for E148Q and M694I. Three patients in one family were compound heterozygotes for E148Q, L110P and M694I. There were 3 patients who were heterozygous for E84K, L110P-E148Q or M694I and had no other nucleotide changes in the exons of MEFV. On the other hand, 2 relatives who had never experienced symptoms of FMF were homozygous for L110P-E148Q as well as compound heterozygous for E148Q/ E148Q-R761H. E148Q and M694I were the most frequently detected substitutions in our study. Conclusions: MEFV mutations occur in Japanese FMF patients though FMF is rare in Japan. The identification of MEFV mutations could be a reliable diagnostic test for FMF. The results of genetic analyses on 14 Japanese FMF patients in this study revealed that E148Q and M694I are frequent alleles.

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