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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


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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
著者: Dateki, Sumito / Nakatomi, Akiko / Watanabe, Satoshi / Shimizu, Hitomi / Inoue, Yukiko / Baba, Hideo / Yoshiura, Koh-ichiro / Moriuchi, Hiroyuki
発行日: 2017年 7月 1日
出版者: Nature Publishing Group
引用: Journal of Human Genetics, 62(7), pp.717-721; 2017
抄録: 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.
キーワード: short stature / Aggrecan / ACAN / bone age / disc herniation
URI: http://hdl.handle.net/10069/37665
ISSN: 14345161
DOI: 10.1038/jhg.2017.33
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/10069/37665

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