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Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation
http://hdl.handle.net/10069/37665
http://hdl.handle.net/10069/376651fc51f89-e462-4660-b2d6-601350652aac
名前 / ファイル | ライセンス | アクション |
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JHG62_717.pdf (517.1 kB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2018-01-01 | |||||
タイトル | ||||||
タイトル | Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | short stature | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Aggrecan | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | ACAN | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | bone age | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | disc herniation | |||||
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× Nakatomi, Akiko× Watanabe, Satoshi× Shimizu, Hitomi× Inoue, Yukiko× Baba, Hideo× Yoshiura, Koh-ichiro× Moriuchi, Hiroyuki |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Aggrecan is a critical proteoglycan component of the extracellular matrix of the growth plates and articular cartilage and has a key role in the biophysical and biomechanical properties of cartilage. Recently, heterozygous mutations in the ACAN gene, which encodes aggrecan, have been identified in patients with short stature and accelerated bone age. We herein report another family with a heterozygous ACAN mutation associated with idiopathic short stature along with accelerated bone age and early-onset herniation of the lumbar discs at the levels of L1/2 through L5/S1. Whole-exome sequencing identified a novel heterozygous frameshift mutation in the ACAN gene (c.1744delT; p.Phe582fs*69) in all of the affected family members but not in the unaffected one, providing further evidence that ACAN haploinsufficiency causes short stature with advanced bone maturation. In addition, we advocate early-onset multiple disc herniation as a novel phenotype associated with ACAN haploinsufficiency. | |||||
書誌情報 |
Journal of Human Genetics 巻 62, 号 7, p. 717-721, 発行日 2017-07-01 |
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出版者 | ||||||
出版者 | Nature Publishing Group | |||||
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.2017.33 | |||||
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(7), pp.717-721; 2017 |