title: [A male case of subcortical band heterotopia with somatic mosaicism of DCX mutation].
abstract: This report describes a male case of subcortical band heterotopia (SBH) with somatic mosaicism of doublecortin (DCX) mutation. His brain MRI revealed bilateral SBH with anterior dominant pachygyria. Although he had infantile spasms from 5-months old and showed mild developmental delay, he responded well to vitamin B6 and ACTH therapy. We conducted DCX mutation analysis using peripheral blood lymphocytes of the proband and his parents. Only the present case showed the mixture pattern of missense mutation (c. 167 G>C) and normal sequence of DCX gene indicating that the present case resulted from somatic mosaicism of de novo DCX mutation. Male patients with DCX mutations generally present with the classical type of lissencephaly, severe developmental delay, and intractable epilepsy. However, somatic mosaic mutation of DCX can lead to SBH in males.
authors.affiliation: Department of Pediatrics, Faculty of Medical Sciences, University of Fukui, Fukui.
authors.forename: Aiko
authors.initials: A
authors.lastname: Igarashi
authors.forename: Masao
authors.initials: M
authors.lastname: Kawatani
authors.forename: Genrei
authors.initials: G
authors.lastname: Ohta
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kometani
authors.forename: Yusei
authors.initials: Y
authors.lastname: Ohshima
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Kato
mesh_terms: D000324:Adrenocorticotropic Hormone / Q000627:therapeutic use; D001921:Brain / Q000473:pathology / Q000503:physiopathology*; D058256:Brain Waves; D002675:Child, Preschool; D054221:Classical Lissencephalies and Subcortical Band Heterotopias / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D006801:Humans; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D009030:Mosaicism; D009154:Mutation / Q000235:genetics*; D009479:Neuropeptides / Q000235:genetics*
chemical_list: C000714328:DCX protein, human; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D008869:Microtubule-Associated Proteins; D009479:Neuropeptides; D000324:Adrenocorticotropic Hormone