AI Article Synopsis
- A novel mutation in the DCX gene was identified in a family where a boy had classical lissencephaly while his mother exhibited mild subcortical band heterotopia.
- No known factors, like somatic mosaicism or skewed X chromosome inactivation, were found to explain the mother's milder symptoms.
- The study concludes that a DCX mutation can lead to varying effects in females despite normal X chromosome inactivation, resulting in less severe dysfunction of the doublecortin protein.
Article 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.
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| http://dx.doi.org/10.1111/ped.12502 | DOI Listing |
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