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Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver–Russell syndrome


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タイトル: Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver–Russell syndrome
著者: Dateki, Sumito / Kagami, Masayo / Matsubara, Keiko / Izumi, Kei / Watanabe, Satoshi / Nakatomi, Akiko / Kondoh, Tatsuro / Fukami, Maki / Moriuchi, Hiroyuki
発行日: 2017年10月 1日
出版者: Springer Nature
引用: Journal of Human Genetics, 62(10), pp.919-922; 2017
抄録: 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.
キーワード: Silver Russel syndrome / 15q duplication / short stature / H19-DMR
URI: http://hdl.handle.net/10069/37864
ISSN: 14345161
DOI: 10.1038/jhg.2017.62
権利: © 2017 The Japan Society of Human Genetics
資料タイプ: Journal Article
原稿種類: author
出現コレクション:030 学術雑誌論文

引用URI : http://hdl.handle.net/10069/37864

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