Identification of two novel missense mutations (p.R1221C and p.R1357W) in the ABCC6 (MRP6) gene in a Japanese patient with pseudoxanthoma elasticum (PXE)
スポンサーリンク
概要
- 論文の詳細を見る
Pseudoxanthoma elasticum (PXE) is a rare, inherited, systemic disease of elastic tissue that in particular affects the skin, eyes, and cardiovascular system. Recently, the ABCC6 (MRP6) gene was found to cause PXE. A defective type of ABCC6 gene (16p13.1) was determined in two Japanese patients with PXE. In order to determine whether these patients have a defect in ABCC6 gene, we examined each of 31 exons and flanking intron sequences by PCR methods (SSCP screening and direct sequencing). We found two novel missense variants in exon 26 and 29 in a compound heterozygous state in the first patient. One is a missense mutation (c.3661C>T; p.R1221C) in exon 26 and the other is a missense mutation (c.4069C>T; p.R1357W) in exon 29. These mutations have not been detected in our control panel of 200 alleles. To our knowledge, this is the first report of mutation identification in the ABCC6 gene in Japanese PXE patients. The second patient was homozygous for 2542_2543delG in ABCC6 gene and heterozygous for 6 kb deletion of LDL-R gene. This case is the first report of a genetically confirmed case of double mutations both in PXE and FH loci.
- 日本内科学会の論文
- 2004-12-01
著者
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Mabuchi Hiroshi
Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine, Graduate School
-
Inazu Akihiro
Molecular Biochemistry And Molecular Biology Laboratory Kanazawa University Graduate School Of Medic
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HIFUMI Senshu
Department of Internal Medicine, Hokuriku Central Hospital
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Uno Yoshihide
Department of Cardiology, Ishikawa Prefectural Central Hospital
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NOZUE Tsuyoshi
Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine, Graduate School
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KAWASHIRI Masa-aki
Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine, Graduate School
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HIGASHIKATA Toshinori
Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine, Graduate School
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Hifumi Senshu
Department Of Internal Medicine Hokuriku Central Hospital
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Nozue Tsuyoshi
Department Of Internal Medicine Yokohama Sakae Kyosai Hospital
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Kitamura Masaru
Department Of Radiology Kanazawa Cardiovascular Hospital
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Uno Yoshihide
Department Of Cardiology Ishikawa Prefectural Central Hospital
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Uno Yoshihide
Department Of Applied Physics Faculty Of Engineering Fukui University
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Nohara Atsushi
Departments Of Lipidology Kanazawa University Graduate School Of Medical Science
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NOJI Yoshihiro
Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine (The Second Depa
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NOHARA Atsushi
Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine (The Second Depa
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YU Wenxin
Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine (The Second Depa
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TODO Yasuhiro
Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine (The Second Depa
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Kawashiri Masaaki
Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Disease
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Noji Yoshihiro
Department Of Internal Medicine And Molecular Genetics Of Cardiovascular Disorders Division Of Cardi
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Hifumi Senshu
Division Of Internal Medicine Hokuriku Central Hospital
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Todo Yasuhiro
Molecular Genetics Of Cardiovascular Disorders Division Of Cardiovascular Medicine (the Second Depar
-
Yu W
Department Of Internal Medicine And Molecular Genetics Of Cardiovascular Disorders Division Of Cardi
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Yu Wenxin
金沢大学 医学系研究科血管分子遺伝学
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Kawashiri Masa-aki
Division Of Cardiovascular Medicine Kanazawa University Graduate School Of Medicine
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Mabuchi H
Kanazawa Univ. School Of Medicine Kanazawa Jpn
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Higashikata Toshinori
Molecular Genetics Of Cardiovascular Disorders Division Of Cardiovascular Medicine Graduate School O
-
Kawashiri Masa-aki
Department Of Internal Medicine And Molecular Genetics Of Cardiovascular Disorders Division Of Cardi
-
Mabuchi Hiroshi
Molecular Genetics Of Cardiovascular Disorders Division Of Cardiovascular Medicine Graduate School O
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Hifumi Senshu
2nd Department Of Internal Medicine Kanazawa University School Of Medicine
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Hifumi Senshu
Department Of Internal Medicine Fukui Cardiovascular Center
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Kawashiri Masa-aki
Molecular Genetics Of Cardiovascular Disorders Division Of Cardiovascular Medicine (the Second Depar
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