A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria

被引：11

作者：

Bassuk, Alexander G. ^{[1
]}

Sherr, Elliott H. ^{[2
]}

机构：

[1] Univ Iowa, Dept Pediat, Div Pediat Neurol, Iowa City, IA 52242 USA

[2] Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94158 USA

来源：

JOURNAL OF NEUROGENETICS | 2015年 / 29卷 / 04期

关键词：

Corpus callosum; de novo mutation; fetal; polymicrogyria; prickle; PRICKLE1; POLARITY; EPILEPSY;

D O I：

10.3109/01677063.2015.1088847

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Homozygous recessive mutations in the PRICKLE1 gene were originally reported in three consanguineous families with myoclonic epilepsy. Subsequently, several studies have identified neurological abnormalities in animal models with both heterozygous and homozygous mutations in PRICKLE1 orthologues, including epilepsy in flies and in mice with heterozygous PRICKLE1 mutations. We describe a fetus with a novel de novo mutation in PRICKLE1 associated with agenesis of the corpus callosum.

引用

页码：174 / 177

页数：4

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