Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX.
Subcortical band heterotopia (SBH) is seen predominantly in females, resulting from mutations in the X-linked doublecortin (DCX) gene, and can present with mild mental retardation and epilepsy. Males carrying DCX mutations usually demonstrate lissencephaly and are clinically much more severely affected. This article reports two cases of males with SBH indistinguishable from the female phenotype, both resulting from somatic mosaicism for DCX mutation.
Poolos
N P
NP
Department of Neurology, Division of Neuroscience, Baylor College of Medicine, Houston, TX, USA. npoolos@u.washington.edu
Das
S
S
Clark
G D
GD
Lardizabal
D
D
Noebels
J L
JL
Wyllie
E
E
Dobyns
W B
WB
D000328:Adult; D001921:Brain / Q000473:pathology*; D002648:Child; D002828:Choristoma / Q000235:genetics* / Q000473:pathology; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D004827:Epilepsy / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008869:Microtubule-Associated Proteins; D009030:Mosaicism / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D009479:Neuropeptides / Q000235:genetics*
C000714328:DCX protein, human; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D008869:Microtubule-Associated Proteins; D009479:Neuropeptides