title: Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.
abstract: A variety of candidate genes have been proposed to cause corpus callosum abnormalities (CCAs) in patients with terminal chromosome 1q deletions. Recent data excluded AKT3 and implicated ZNF238 and/or CEP170 as genes causative of corpus callosum anomalies in patients with 1q43-1q44 deletions. We report on a girl with dysmorphic features, seizures beginning in infancy, hypotonia, marked developmental delay, and dysgenesis of the corpus callosum. Chromosomal microarray analysis detected a de novo 1.47 Mb deletion at 1q44. The deleted interval encompasses the ZNF238 gene but not the CEP170 or AKT3 genes, thus providing additional evidence for the former and against the latter as being causative of corpus callosum anomalies in patients with such deletions.
authors.affiliation: Neuromuscular Division, Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.
authors.forename: Seth J
authors.initials: SJ
authors.lastname: Perlman
authors.forename: Shashikant
authors.initials: S
authors.lastname: Kulkarni
authors.forename: Linda
authors.initials: L
authors.lastname: Manwaring
authors.forename: Marwan
authors.initials: M
authors.lastname: Shinawi
mesh_terms: D061085:Agenesis of Corpus Callosum / Q000175:diagnosis / Q000235:genetics*; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D056726:Genetic Association Studies; D057895:Haploinsufficiency; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008279:Magnetic Resonance Imaging; D010641:Phenotype; D012097:Repressor Proteins / Q000235:genetics*
chemical_list: D012097:Repressor Proteins; C115048:ZBTB18 protein, human