title: Deletion of 14-3-3{varepsilon} and CRK: a clinical syndrome with macrocephaly, developmental delay, and generalized epilepsy.
abstract: Deletions of chromosome 17p13.3 result in neuronal migration defects such as isolated lissencephaly sequence and Miller-Dieker syndrome. LIS1 is the deleted gene within this region and is thought to directly cause isolated lissencephaly sequence and contribute to Miller-Dieker syndrome. Two additional genes (14-3-3ε and CRK) on the telomeric end of chromosome 17p reportedly contribute to the severe phenotype of Miller-Dieker syndrome. We report 2 patients with deletions of chromosome 17p13.3 involving the genes 14-3-3ε and CRK but not LIS1 with previously unreported, identical phenotypes of macrocephaly, small stature, dysmorphic features, generalized epilepsy, developmental delay, and nonspecific white matter changes. The findings in this report suggest that patients who have deletions of 14-3-3ε and/or CRK should be monitored closely for the development of seizures.
authors.affiliation: Division of Neurology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, and University of Cincinnati College of Medicine, Cincinnati, OH 45229-3039, USA. jeffrey.tenney@cchmc.org
authors.forename: Jeffrey R
authors.initials: JR
authors.lastname: Tenney
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Hopkin
authors.forename: Mark B
authors.initials: MB
authors.lastname: Schapiro
mesh_terms: D048948:14-3-3 Proteins / Q000235:genetics*; D001921:Brain / Q000002:abnormalities; D002675:Child, Preschool; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D003582:Cytogenetics; D002658:Developmental Disabilities / Q000235:genetics*; D004569:Electroencephalography; D004829:Epilepsy, Generalized / Q000235:genetics*; D005260:Female; D006801:Humans; D058627:Megalencephaly / Q000235:genetics*; D050737:Proto-Oncogene Proteins c-crk / Q000235:genetics*; D013577:Syndrome
chemical_list: D048948:14-3-3 Proteins; C485285:CRK protein, human; D050737:Proto-Oncogene Proteins c-crk; C482983:YWHAE protein, human