Abstract
Doublecortin (DCX) and tubulin play critical roles in neuronal migration. DCX mutations usually cause anterior dominant lissencephaly in males and subcortical
band heterotopia (SBH) in females. We used whole-exome sequencing to investigate causative
gene variants in a large family with late-childhood-onset focal epilepsy and anterior
dominant pachygyria without SBH in both genders. Two potential variants were found
for the genes encoding DCX and beta tubulin isotype 1 (TUBB1). The novel DCX mutation (p.D90G, NP_000546.2) appeared to be a major causative variant, whereas
the novel mutation of TUBB1 (p.R62fsX, NP_110400.1) was found only in patients with more-severe intellectual
disability after gender matching. We report an unusual DCX-related disorder exhibiting familial pachygyria without SBH in both genders.
Keywords
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Article info
Publication history
Published online: December 29, 2015
Accepted:
December 11,
2015
Received in revised form:
December 6,
2015
Received:
November 1,
2015
Identification
Copyright
© 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
