title: Novel DCX mutation-caused lissencephaly in a boy and very mild heterotopia in his mother.
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.
authors: Perinatal and Neonatal Center, Aichi Medical University Hospital, Aichi, Japan.
authors: Satoru
authors: S
authors: Takeshita
authors: Machiko
authors: M
authors: Higuchi
authors: Megumi
authors: M
authors: Suyama
authors: Wakato
authors: W
authors: Koide
authors: Kanemasa
authors: K
authors: Maki
authors: Katsumi
authors: K
authors: Ushijima
authors: Kyoko
authors: K
authors: Ban
authors: Mariko
authors: M
authors: Saito
authors: Mitsuhiro
authors: M
authors: Kato
authors: Shinji
authors: S
authors: Saitoh
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology*; D002675:Child, Preschool; D054221:Classical Lissencephalies and Subcortical Band Heterotopias / Q000235:genetics*; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D009035:Mothers; D009154:Mutation; D009479:Neuropeptides / Q000235:genetics*; D010641:Phenotype
chemical_list: C000714328:DCX protein, human; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D008869:Microtubule-Associated Proteins; D009479:Neuropeptides
keywords: DCX; X chromosome inactivation; doublecortin; lissencephaly; subcortical band heterotopia