Abstract
The incidence of mutations in the X-linked gene doublecortin in patients with “double cortex” syndrome (DC; also called subcortical band heterotopia or laminar heterotopia) and familial DC with lissencephaly was investigated in a cohort of 8 pedigrees and 47 sporadic patients with DC examined at the Division of Neurogenics, Beth Israel Deaconess Medical Center, Boston, and multiple centers in the US and abroad.
Highlights
The incidence of mutations in the X-linked gene doublecortin in patients with "double cortex" syndrome (DC; called subcortical band heterotopia or laminar heterotopia) and familial DC with lissencephaly was investigated in a cohort of 8 pedigrees and 47 sporadic patients with DC examined at the Division of Neurogenics, Beth Israel Deaconess Medical Center, Boston, and multiple centers in the US and abroad
Single amino acid substitution mutations were identified more frequently in inherited DC, whereas protein truncation mutations were found in sporadic cases
Two regions of the predicted amino acid sequence where mutations clustered were critical for the function of the DC protein
Summary
The incidence of mutations in the X-linked gene doublecortin in patients with "double cortex" syndrome (DC; called subcortical band heterotopia or laminar heterotopia) and familial DC with lissencephaly was investigated in a cohort of 8 pedigrees and 47 sporadic patients with DC examined at the Division of Neurogenics, Beth Israel Deaconess Medical Center, Boston, and multiple centers in the US and abroad. Single amino acid substitution mutations were identified more frequently in inherited DC, whereas protein truncation mutations were found in sporadic cases. Single amino acid substitution mutations have less reproductive disadvantage than protein truncation mutations. (Gleeson JG, Minnerath SR, Fox JW et al Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. In an Editorial, discussing both the Gleeson article on DC syndrome and another on classical lissencephaly in the same issue Asymptomatic mothers of children with DCX mutations are at risk of further transmitting the disorder, whereas no germline transmission of LIS1 mutations have been described
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