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Case Reports
. 2015 Apr;57(2):321-3.
doi: 10.1111/ped.12502.

Novel DCX mutation-caused lissencephaly in a boy and very mild heterotopia in his mother

Satoru Takeshita  1 , Machiko Higuchi, Megumi Suyama, Wakato Koide, Kanemasa Maki, Katsumi Ushijima, Kyoko Ban, Mariko Saito, Mitsuhiro Kato, Shinji Saitoh
Affiliations
Case Reports

Novel DCX mutation-caused lissencephaly in a boy and very mild heterotopia in his mother

Satoru Takeshita et al. Pediatr Int. 2015 Apr.

Abstract

We describe a novel mutation in DCX in a family in which a proband boy had classical lissencephaly and his mother had extremely mild subcortical band heterotopia. No factors that would make the mother's symptoms milder, such as somatic mosaicism or skewed X chromosome inactivation, were observed. From this family, we conclude that a DCX mutation causes a pleiotropic phenotype in the female even if X chromosome inactivation pattern is not skewed, and the novel missense mutation in DCX produced relatively mild dysfunction of the doublecortin protein.

Keywords: DCX; X chromosome inactivation; doublecortin; lissencephaly; subcortical band heterotopia.

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