Mutational Analysis of Fukutin Gene in Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy(Molecular Cardiology)
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概要
- 論文の詳細を見る
Background Mutations in FKTN encoding for fukutin cause Fukuyama-type congenital muscular dystrophy characterized by severe muscle wasting and hypotonia with mental retardation. Fukuyama-type congenital muscular dystrophy is a recessive genetic trait. FKTN mutations in patients with dilated cardiomyopathy (DCM) have been investigated by our research group. The patients showed hyper-CKemia with mild or no muscle weakness and without mental retardation, suggesting that the clinical spectrum of FKTN mutations are wider than previously thought. The current study was designed to further explore the association of FKTN mutations with DCM or hypertrophic cardiomyopathy (HCM). Methods and Results A total of 172 patients with DCM, 144 patients with familial HCM and 384 control individuals were analyzed for FKTN mutations. There was a DCM patient who was a compound heterozygote of a 3-kb insertion mutation and a missense mutation Cys101Phe. The patient showed hyper-CKemia with mild muscle involvement and no brain involvement. In contrast, 2 other DCM patients and 3 controls were heterozygous for the insertion mutation and normal allele, showing that the heterozygous insertion mutation itself was not associated with DCM. No mutation was found in the HCM patients. Conclusions These observations indicated that the compound heterozygous FKTN mutation was a rare cause of DCM. Hyper-CKemia might be indicative of FKTN mutation in DCM.
- 社団法人日本循環器学会の論文
- 2008-12-20
著者
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Hattori Nobutaka
Department of Neurology, Juntendo University School of Medicine
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Nishino Ichizo
Department Of Neuromuscular Research National Institute Of Neuroscience National Center Of Neurology
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MURAKAMI Terumi
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurolo
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HAYASHI Yukiko
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurolo
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Arimura Takuro
Department of Molecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental Universit
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Oya Yasushi
Department of Neurology, National Center Hospital of Neurology and Psychiatry, NCNP
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Funabe Sayaka
Department of Neurology, Juntendo University School of Medicine
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Arikawa-Hirasawa Eri
Department of Neurology, Juntendo University School of Medicine
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Kimura Akinori
Department of Molecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental Universit
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Hayashi Y
Department Of Neuromuscular Research National Institute Of Neuroscience National Center Of Neurology
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Hayashi Yukiko
国立精神･神経センター神経研究所 疾病研究第一部
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Kimura Akinori
Department Of Diagnostic And Therapeutic Radiology Ehime University Graduate School Of Medicine
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Kimura Akinori
Department Of Molecular Pathogenesis Medical Research Institute Tokyo Medical And Dental University:
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Arikawa-hirasawa Eri
Department Of Neurology Juntendo University School Of Medicine
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Oya Yasushi
Department Of Neurology National Center Hospital Of Neurology And Psychiatry Ncnp
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Hayashi Yukiko
National Institute Of Neuroscience National Center Of Neurology And Psychiatry
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Funabe Sayaka
Department Of Neurology Juntendo University School Of Medicine
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Nishino Ichizo
Department Of Neuromuscular Disorders National Institute Of Neuroscience National Center Of Neurolog
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Murakami Terumi
Department Of Neuromuscular Research National Institute Of Neuroscience National Center Of Neurology
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Hayashi Yukiko
Department Of Internal Medicine Asama General Hospital
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Arimura Takuro
Department Of Molecular Pathogenesis Division Of Adult Diseases
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Nishino Ichizo
Department Of Neuromuscular Research National Institute Of Neuroscience National Center Of Neurology
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Hayashi Yukiko
Department Of Neuromuscular Research National Institute Of Neuroscience National Center Of Neurology
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Hattori Nobutaka
Department Of Neurology Juntendo University School Of Medicine
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Oya Yasushi
Department Of Neurology National Center Hospital For Neurology And Psychiatry National Center Of Neu
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