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Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome
http://hdl.handle.net/10069/38894
http://hdl.handle.net/10069/38894118a5884-5e44-476e-8135-100fea203b67
名前 / ファイル | ライセンス | アクション |
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JHG_Dateki2019.pdf (698.6 kB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2019-08-22 | |||||
タイトル | ||||||
タイトル | Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome | |||||
言語 | ||||||
言語 | eng | |||||
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 |
Shimizu, Hitomi
× Shimizu, Hitomi× Watanabe, Satoshi× Kinoshita, Akira× Mishima, Hiroyuki× Nishimura, Gen× Moriuchi, Hiroyuki× Yoshiura, Koh-ichiro× Dateki, Sumito |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Spondylocarpotarsal synostosis syndrome, a rare syndromic skeletal disorder characterized by disrupted vertebral segmentation with vertebral fusion, scoliosis, short stature, and carpal/tarsal synostosis, has been associated with biallelic truncating mutations in the filamin B gene or monoallelic mutations in the myosin heavy chain 3 gene. We herein report the case of a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome who had a homozygous frameshift mutation in the refilin A gene (RFLNA) [c.241delC, p.(Leu81Cysfs*111)],which encodes one of the filamin-binding proteins. Refilins, filamins, and myosins play critical roles in forming perinuclear actin caps, which change the nuclear morphology during cell migration and differentiation. The present study implies that RFLNA is an additional causative gene for spondylocarpotarsal synostosis syndrome in humans and a defect in forming actin bundles and perinuclear actin caps may be a critical mechanism for the development of spondylocarpotarsal synostosis syndrome. |
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書誌情報 |
Journal of Human Genetics 巻 64, p. 467-471, 発行日 2019-02-22 |
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出版者 | ||||||
出版者 | Springer Nature Publishing | |||||
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/s10038-019-0581-9 | |||||
権利 | ||||||
権利情報 | c 2019, The Author(s), under exclusive licence to 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, 64, pp.467-471; 2019 |