Novel DCX mutation‐caused lissencephaly in a boy and very mild heterotopia in his mother. Issue 2 (April 2015)

• Record Type: Journal Article
• Authors: Takeshita, Satoru; Higuchi, Machiko; Suyama, Megumi; Koide, Wakato; Maki, Kanemasa; Ushijima, Katsumi; Ban, Kyoko; Saito, Mariko; Kato, Mitsuhiro; Saitoh, Shinji
• Is Part Of: Pediatrics international. Volume 57:Issue 2(2015)
• Page Start: 321
• Page End: 323
• Publication Date: 2015-04
• Subjects: Pediatrics -- Periodicals; 618.92
• DOI: 10.1111/ped.12502
• Languages: English
• ISSNs: 1328-8067

Abstract

<abstract abstract-type="main"> <title>Abstract</title> <p>We describe a novel mutation in <italic>DCX</italic> 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 <italic>DCX</italic> mutation causes a pleiotropic phenotype in the female even if X chromosome inactivation pattern is not skewed, and the novel missense mutation in <italic>DCX</italic> produced relatively mild dysfunction of the doublecortin protein.</p> </abstract>