アマノ ケンジ
Amano
天野 賢治 所属 東邦大学 医学部 医学科(大森病院) 職種 胚培養士 |
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論文種別 | 原著 |
言語種別 | 英語 |
査読の有無 | 査読なし |
表題 | Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. |
掲載誌名 | 正式名:Journal of human genetics ISSNコード:1434-5161 |
掲載区分 | 国外 |
巻・号・頁 | 45(4),pp.231-6 |
著者・共著者 | K Amano,Y Nomura,M Segawa,K Yamakawa |
発行年月 | 2000 |
概要 | Rett syndrome is a neurodevelopmental disorder observed almost exclusively in girls, and is characterized by autistic tendency, severe mental retardation, stereotyped hand movements, seizures, and acquired microcephaly. Recently, the MECP2 (methyl-CpG-binding protein 2) gene, mapped on chromosome Xq28, was reported to be responsible for Rett syndrome. We performed mutational analysis of the MECP2 gene in 26 Japanese patients with Rett syndrome (who were sporadic cases), and identified disease alleles in 19 patients. The mutations consisted of 12 different types including 3 missense, 3 nonsense, and 6 frameshift mutations. Of these, 8 mutations are novel. Most of these mutations affect the functional domains, methyl-CpG binding domain (MBD), and transcriptional repression domain (TRD), and therefore may critically affect the function of MeCP2. The disease phenotype of patients with mutations in the MBD tended to be more severe than the phenotype of those with mutations in the TRD. We also identified 2 types of silent mutations and 4 types of missense mutations as benign variants, and these are all novel ones. Most of the nucleotide substitutions involve C-->T transitions at CpG hotspots. The novel disease alleles and benign variants of the MECP2 gene found in this study should contribute to the establishment of a reliable diagnosis of Rett syndrome. |
PMID | 10944854 |