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Characterization of intragenic tandem duplication in the PAFAH1B1 gene leading to isolated lissencephaly sequence.
https://asahikawa-med.repo.nii.ac.jp/records/5362
https://asahikawa-med.repo.nii.ac.jp/records/536284a79165-518b-4761-9361-e5eecf427839
名前 / ファイル | ライセンス | アクション |
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Item type | 学術雑誌論文 / Journal Article_02(1) | |||||
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公開日 | 2016-02-03 | |||||
タイトル | ||||||
タイトル | Characterization of intragenic tandem duplication in the PAFAH1B1 gene leading to isolated lissencephaly sequence. | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Duplication | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Lissencephaly | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Microhomology | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Neuronal migration | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | PAFAH1B1 | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | journal article | |||||
著者 |
高橋, 悟
× 高橋, 悟× 田中, 亮介× 岡野, 聡美× 岡山, 亜貴恵× 鈴木, 菜生× 東, 寛 |
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著者 ローマ字 | ||||||
値 | Takahashi, Satoru | |||||
著者 ローマ字 | ||||||
値 | Tanaka, Ryosuke | |||||
著者 ローマ字 | ||||||
値 | Okano, Satomi | |||||
著者 ローマ字 | ||||||
値 | Okayama, Akie | |||||
著者 ローマ字 | ||||||
値 | Suzuki, Nao | |||||
著者 ローマ字 | ||||||
値 | Azuma, Hiroshi | |||||
書誌情報 |
Molecular Cytogenetics 巻 8, 号 84, p. 1-6, 発行日 2015-10-01 |
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DOI | ||||||
関連タイプ | isIdenticalTo | |||||
識別子タイプ | DOI | |||||
関連識別子 | 10.1186/s13039-015-0186-8 | |||||
識別番号 その他 | ||||||
内容記述タイプ | Other | |||||
内容記述 | PMID:26523152 | |||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | BACKGROUND: \nGenetic aberrations in PAFAH1B1 result in isolated lissencephaly sequence (ILS), a neuronal migration disorder associated with severe mental retardation and intractable epilepsy. Approximately 60 % of patients with ILS show a 17p13.3 deletion or an intragenic variation of PAFAH1B1 that can be identified by fluorescence in situ hybridization (FISH) analysis or gene sequencing. Using multiplex ligation-dependent probe amplification (MLPA), 40-80 % of the remaining patients show small genomic deletions or duplications of PAFAH1B1. The intragenic duplications within PAFAH1B1 are predicted to abolish the PAFAH1B1 function, although a detailed characterization of the duplication regions have not been reported. RESULTS: \nHere we describe a female patient with ILS occurring predominantly in the posterior brain regions. MLPA was used to identify a small duplication within PAFAH1B1. This result was confirmed by array-based comparative genomic hybridization analysis, revealing a duplication of the 29-kb region encompassing putative regulatory elements and exon 2 of PAFAH1B1. The region was characterized as an intragenic tandem duplication by sequencing, revealing a 28-bp microhomology sequence at the breakpoint junctions. Parental genetic testing confirmed that the tandem duplication occurred de novo. Reverse transcription-PCR on RNA extracted from peripheral blood leukocytes revealed that the expression level of PAFAH1B1 decreased to that in a patient with Miller-Dieker syndrome, a contiguous gene-deletion disorder characterized by classical lissencephaly and a facial dysmorphism. CONCLUSIONS: \nThis study expanded the spectrum of PAFAH1B1 variants and identified a unique genomic architecture including microhomology sequences in PAFAH1B1 underlying an intragenic tandem duplication leading to ILS. |
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注記 | ||||||
内容記述タイプ | Other | |||||
内容記述 | the Creative Commons Attribution 4.0 | |||||
資源タイプ | ||||||
内容記述タイプ | Other | |||||
内容記述 | text | |||||
著者版フラグ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
フォーマット | ||||||
内容記述タイプ | Other | |||||
内容記述 | application/pdf | |||||
ID(XooNIps) | ||||||
値 | 26523152 | |||||
閲覧数(XooNIps) | ||||||
値 | 853 | |||||
ダウンロード数(XooNIps) | ||||||
値 | 1267 |