与肌阵挛性癫痫和自闭症谱系障碍相关的PRICKLE1基因新发突变。
A de novo mutation in PRICKLE1 associated with myoclonic epilepsy and autism spectrum disorder.
作者信息
Todd Brittany P, Bassuk Alexander G
机构信息
a Department of Pediatrics , The University of Iowa , Iowa City , United States.
出版信息
J Neurogenet. 2018 Dec;32(4):313-315. doi: 10.1080/01677063.2018.1473862. Epub 2018 May 23.
Abstract
Homozygous recessive mutations in the PRICKLE1 gene were first described in three consanguineous families with myoclonic epilepsy. Subsequent studies have identified neurological abnormalities in humans and animal models with both heterozygous and homozygous mutations in PRICKLE1 orthologs. We describe a 7-year-old with a novel de novo missense mutation in PRICKLE1 associated with epilepsy, autism spectrum disorder and global developmental delay.
摘要
PRICKLE1基因的纯合隐性突变最初在三个患有肌阵挛性癫痫的近亲家庭中被描述。随后的研究在人类和动物模型中发现，PRICKLE1直系同源基因的杂合和纯合突变均与神经功能异常有关。我们描述了一名7岁儿童，其PRICKLE1基因存在一种新的从头错义突变，该突变与癫痫、自闭症谱系障碍和全面发育迟缓相关。
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