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Novel and recurrent ASPM mutations of founder effect in Chinese population.

Brain & development - 1 Sept 2022

Li Mengting, Luo Jingrong, Yang Qi, Chen Fei, Chen Jie, Qin Jiayi, He Wei, Chen Junjie, Yi Sheng, Qin Zailong, Yi Shang, Huang Limei, Qiu Xiaoxia, Pan Pingshan, Luo Jingsi, Shen Yiping

Abstract excerpt

PURPOSE: Mutations in ASPM are the most common causes of primary microcephaly (MCPH), which is a rare brain developmental disorder with few studies in Chinese population so far. This study aimed to identify the common pathogenic variants of ASPM and estimated the incidence of MCPH5 in Guangxi population. METHODS: We ascertained six MCPH cases caused by ASPM mutations in Guangxi Zhuang Autonomous Region,...

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PMID: 35491272
DOI: 10.1016/j.braindev.2022.04.007

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