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Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver?Russell syndrome
http://hdl.handle.net/10069/37864
http://hdl.handle.net/10069/37864ef1618da-df80-404a-897e-7b95d5050a41
名前 / ファイル | ライセンス | アクション |
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JHG62_919.pdf (555.0 kB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2018-04-01 | |||||
タイトル | ||||||
タイトル | Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver?Russell syndrome | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Silver Russel syndrome | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 15q duplication | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | short stature | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | H19-DMR | |||||
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 |
Dateki, Sumito
× Dateki, Sumito× Kagami, Masayo× Matsubara, Keiko× Izumi, Kei× Watanabe, Satoshi× Nakatomi, Akiko× Kondoh, Tatsuro× Fukami, Maki× Moriuchi, Hiroyuki |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Silver?Russell syndrome (SRS) is a congenital developmental disorder characterized by intrauterine and postnatal growth failure, craniofacial features (including a triangular shaped face and broad forehead), relative macrocephaly, protruding forehead, body asymmetry and feeding difficulties. Hypomethylation of the H19 differentially methylated region (DMR) on chromosome 11p15.5 is the most common cause of the SRS phenotype. We report the first SRS patient with hypomethylation of the H19-DMR and maternally derived 15q11.2-q13.1 duplication. Although her clinical manifestations overlapped with those of previously reported SRS cases, the patient’s intellectual disability and facial dysmorphic features were inconsistent with the SRS phenotype. Methylation analyses, array comparative genomic hybridization, and a FISH analysis revealed the hypomethylation of the H19-DMR and a maternally derived interstitial 5.7?Mb duplication at 15q11.2-q13.1 encompassing the Prader?Willi/Angelman critical region in the patient. On the basis of the genetic and clinical findings in the present and previously reported cases, it is unlikely that the 15q duplication in the patient led to the development of hypomethylation of the H19-DMR and it is reasonable to consider that the characteristic phenotype in the patient was caused by the coexistence of the two (epi)genetic conditions. Further studies are needed to clarify the mechanisms leading to methylation aberrations in SRS. | |||||
書誌情報 |
Journal of Human Genetics 巻 62, 号 10, p. 919-922, 発行日 2017-10-01 |
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出版者 | ||||||
出版者 | Springer Nature | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 14345161 | |||||
EISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 1435232X | |||||
DOI | ||||||
関連タイプ | isVersionOf | |||||
識別子タイプ | DOI | |||||
関連識別子 | 10.1038/jhg.2017.62 | |||||
権利 | ||||||
権利情報 | c 2017 The Japan Society of Human Genetics | |||||
著者版フラグ | ||||||
出版タイプ | AM | |||||
出版タイプResource | http://purl.org/coar/version/c_ab4af688f83e57aa | |||||
引用 | ||||||
内容記述タイプ | Other | |||||
内容記述 | Journal of Human Genetics, 62(10), pp.919-922; 2017 |