New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.

ABSTRACT: X-linked isolated lissencephaly sequence and subcortical band heterotopia are allelic human disorders associated with mutations of doublecortin (DCX), giving both familial and sporadic forms. DCX encodes a microtubule-associated protein involved in neuronal migration during brain development. Structural data show that mutations can fall either in surface residues, likely to impair partner interactions, or in buried residues, likely to impair protein stability. Despite the progress in understanding the molecular basis of these disorders, the prognosis value of the location and impact of individual DCX mutations has largely remained unclear. To clarify this point, we investigated a cohort of 180 patients who were referred with the agyria-pachygyria subcortical band heterotopia spectrum. DCX

SUBMITTER: Bahi-Buisson N 

PROVIDER: S-EPMC3562079 | biostudies-literature | 2013 Jan

REPOSITORIES: biostudies-literature