一种未分类的变异在一名患有CHARGE综合征的患者中激活了一个隐蔽剪接位点。
An unclassified variant of activates a cryptic splice site in a patient with CHARGE syndrome.
作者信息
Katoh-Fukui Yuko, Yatsuga Shuichi, Shima Hirohito, Hattori Atsushi, Nakamura Akie, Okamura Kohji, Yanagi Kumiko, Iso Manami, Kaname Tadashi, Matsubara Yoichi, Fukami Maki
机构信息
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan.
出版信息
Hum Genome Var. 2018 Mar 8;5:18006. doi: 10.1038/hgv.2018.6. eCollection 2018.
CHARGE syndrome is a rare autosomal dominant disease that is typically caused by heterozygous mutations. A variant in a splicing acceptor site (NM_017780.3:c.7165-4A>G) was identified in a Japanese boy with CHARGE syndrome. This variant has been considered to be an "unclassified variant" due to its position outside the consensus splicing sites. In this study, abnormal splicing derived from this known variant was confirmed by cDNA sequencing.
CHARGE综合征是一种罕见的常染色体显性疾病，通常由杂合突变引起。在一名患有CHARGE综合征的日本男孩中，发现了一个剪接受体位点的变异（NM_017780.3:c.7165-4A>G）。由于该变异位于共有剪接位点之外，因此被认为是一种“未分类变异”。在本研究中，通过cDNA测序证实了源自该已知变异的异常剪接。
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