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J Neurogenet. 2015;29(4):174-7. doi: 10.3109/01677063.2015.1088847. Epub 2016 Jan 4.

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

Author information

1
a Department of Pediatrics, Division of Pediatric Neurology , The University of Iowa , Iowa City , IA , USA.
2
b Department of Neurology , University of California, San Francisco , San Francisco , CA , USA.

Abstract

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.

KEYWORDS:

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

PMID:
26727662
PMCID:
PMC4813514
DOI:
10.3109/01677063.2015.1088847
[Indexed for MEDLINE]
Free PMC Article

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