Mutations in the DCX gene are associated with X-linked lissencephaly in hemizygous males and subcortical band heterotopia (SBH), which gives the appearance of a “double cortex,” in heterozygous females. A few rare missense mutations have been reported to cause SBH in males. Deletions/duplications account for a small percentage of mutations in females with SBH and also exist in males with lissencephaly. A combination of DNA sequencing and deletion/duplication analysis of the DCX gene is expected to detect abnormalities in approximately 90% of individuals with SBH:100% of familial cases and 53-80% of sporadic cases.
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Most cases are due to sequence variants. Therefore, sequencing should be ordered first. If sequencing is unrevealing, then deletion/duplication analysis may be considered.
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