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
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
