A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies

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A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies

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作者：Meng-Han Tsai^a ; ^j ; Pei-Wen Kuo^b ; Candace T. Myers^c ; Shih-Wen Li^a ; Wei-Che Lin^d ; Ting-Ying Fu^e ; Hsin-Yun Chang^f ; Heather C. Mefford^c ; Yao-Chung Chang^a ; ^g ; ^h ; ^{ycchuang@cgmh.org.tw" class="auth_mail" title="E-mail the corresponding author} ; Jin-Wu Tsai^b ; ⁱ ; ^{tsaijw@ym.edu.tw" class="auth_mail" title="E-mail the corresponding author}
关键词：DCX ; Somatic mosaicism ; Lissencephaly ; Double cortex ; Subcortical band heterotopia ; Functional study ; Doublecortin ; Microtubule
刊名：European Journal of Paediatric Neurology
出版年：2016
出版时间：September 2016
年：2016
卷：20
期：5
页码：788-794
全文大小：1097 K

文摘

•: A novel DCX p.D262G mutation was identified in an unaffected mother with 8% mosaicism.
•: Low level mosaicism in DCX could be a hidden risk of inheriting lissencephaly/SBH.
•: The p.D262G mutant doublecortin has reduced binding affinity to microtubules.