AKT3 as a candidate gene for corpus callosum anomalies in patients with 1q44 deletions.

摘要

Dear Editor,In the January/February issue of the European Journal of Medical Genetics Andrieux and co-workers reported on a patient with a 6.9 Mb lqter deletion/4.4 Mb 18pter duplication and seizures, microcephaly, polymicrogyria, vermis hypoplasia and hypo/aplasia of the corpus callosum [1]. In addition to five zinc finger domain genes the reported deletion contained the AKT3 gene. The authors conclude that the AKT3 gene is the strongest candidate for microcephaly associated with hypo/aplasia of the corpus callosum [1]. We recently reported on a patient with severe psychomotor retardation, microcephaly, hypo/aplasia of the corpus callosum and vermis hypoplasia, who carried a terminal 4.8 Mb deletion of the 1q44 region.