title: A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria.
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.
authors.affiliation: a Department of Pediatrics, Division of Pediatric Neurology , The University of Iowa , Iowa City , IA , USA.
authors.forename: Alexander G
authors.initials: AG
authors.lastname: Bassuk
authors.affiliation: b Department of Neurology , University of California, San Francisco , San Francisco , CA , USA.
authors.forename: Elliott H
authors.initials: EH
authors.lastname: Sherr
mesh_terms: D000328:Adult; D061085:Agenesis of Corpus Callosum / Q000150:complications* / Q000235:genetics*; D003241:Consanguinity; D004252:DNA Mutational Analysis; D004827:Epilepsy / Q000209:etiology / Q000235:genetics; D005260:Female; D006801:Humans; D060588:LIM Domain Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D059906:Neuroimaging; D065706:Polymicrogyria / Q000150:complications* / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D060588:LIM Domain Proteins; C515173:PRICKLE1 protein, human; D025521:Tumor Suppressor Proteins
keywords: Corpus callosum; PRICKLE1; de novo mutation; fetal; polymicrogyria; prickle