A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly

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• 作者：Yutaka Negishi ; Fuyuki Miya ; Ayako Hattori ; Yoshikazu Johmura…
• 关键词：AKT3 ; MCAP ; MPPH ; Multiplex targeted sequencing ; Phosphorylated S6 ribosomal protein ; PIK3R2 ; PTEN
• 刊名：BMC Medical Genetics
• 出版年：2017
• 出版时间：December 2017
• 年：2017
• 卷：18
• 期：1
• 全文大小：1841KB
• 刊物主题：Human Genetics; Cytogenetics; Gene Function;
• 出版者：BioMed Central
• ISSN：1471-2350
• 卷排序：18

文摘

BackgroundConstitutive activation of the PI3K-AKT-mTOR pathway (mTOR pathway) underlies megalencephaly in many patients. Yet, prevalence of the involvement of the PI3K-AKT-mTOR pathway in patients with megalencephaly remains to be elucidated, and molecular diagnosis is challenging. Here, we have successfully established a combination of genetic and biochemical methods for diagnosis of mTOR pathway-associated megalencephaly, and have attempted to delineate the clinical characteristics of the disorder.