Familial pachygyria in both genders related to a DCX mutation

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• 作者：Young Ok Kim^a ; ^b ; ^{ik052@jnu.ac.kr" class="auth_mail" title="E-mail the corresponding author} ; Tai-Seung Nam^c ; Chungoo Park^d ; Seul Kee Kim^e ; Woong Yoon^e ; Seok-Yong Choi^b ; ^f ; Myeong-Kyu Kim^c ; Young Jong Woo^a
• 关键词：Pachygyria ; Focal seizures ; DCX ; Genetics ; Intellectual disability
• 刊名：Brain and Development
• 出版年：2016
• 出版时间：June 2016
• 年：2016
• 卷：38
• 期：6
• 页码：585-589
• 全文大小：331 K

文摘

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.