期刊
BRAIN & DEVELOPMENT
卷 38, 期 6, 页码 585-589出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.braindev.2015.12.005
关键词
Pachygyria; Focal seizures; DCX; Genetics; Intellectual disability
资金
- Research Institute of Medical Sciences, Chonnam National University [2013-CURIMS-DR003]
- Korea Center for Disease Control and Prevention, Republic of Korea [4845-301, 4851-302, 4851-307, KBP-2015-045]
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. (c) 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
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