通过血浆球三糖神经鞘脂水平评估法布里病新生儿筛查中发现的一种新突变。
A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels.
作者信息
Chinen Yasutsugu, Nakamura Sadao, Yoshida Tomohide, Maruyama Hiroki, Nakamura Kimitoshi
机构信息
Department of Pediatrics, Faculty of Medicine, University of the Ryukyus , Nishihara, Japan.
Department of Clinical Nephroscience, Niigata University Graduate School of Medical and Dental Sciences , Niigata, Japan.
出版信息
Hum Genome Var. 2017 Feb 16;4:17002. doi: 10.1038/hgv.2017.2. eCollection 2017.
A pilot study of newborn screening for Fabry disease was performed in Okinawa, Japan. A total of 2,443 neonates were screened using dried blood spot samples over 7 years starting in 2007. Of 13 neonates determined to have low α-galactosidase A (GLA) activity, one boy had a new missense mutation, p.G144D of the gene. This mutation was considered to be a late-onset type, as evaluated based on plasma globotriaosylsphingosine levels and family history.
在日本冲绳进行了一项关于法布里病新生儿筛查的试点研究。从2007年开始的7年时间里，共使用干血斑样本对2443名新生儿进行了筛查。在13名被确定为α-半乳糖苷酶A（GLA）活性低的新生儿中，有一名男孩携带一种新的错义突变，即该基因的p.G144D突变。根据血浆球三糖神经酰胺水平和家族病史评估，这种突变被认为是迟发型。
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