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Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions
Author(s) -
Perlman Seth J.,
Kulkarni Shashikant,
Manwaring Linda,
Shinawi Marwan
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35779
Subject(s) - corpus callosum , haploinsufficiency , dysgenesis , biology , hypotonia , genetics , chromosome , gene , subtelomere , phenotype , anatomy
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. © 2013 Wiley Periodicals, Inc.