Barbelanne Marine, Tsang William Y
Institut de Recherches Cliniques de Montréal, 110 avenue des Pins Ouest, Montréal, QC, Canada H2W 1R7 ; Faculté de Médecine, Université de Montréal, Montréal, QC, Canada H3C 3J7.
Institut de Recherches Cliniques de Montréal, 110 avenue des Pins Ouest, Montréal, QC, Canada H2W 1R7 ; Faculté de Médecine, Université de Montréal, Montréal, QC, Canada H3C 3J7 ; Division of Experimental Medicine, McGill University, Montréal, QC, Canada H3A 1A3.
Biomed Res Int. 2014;2014:547986. doi: 10.1155/2014/547986. Epub 2014 Dec 8.
Autosomal recessive primary microcephaly (MCPH) is a rare hereditary neurodevelopmental disorder characterized by a marked reduction in brain size and intellectual disability. MCPH is genetically heterogeneous and can exhibit additional clinical features that overlap with related disorders including Seckel syndrome, Meier-Gorlin syndrome, and microcephalic osteodysplastic dwarfism. In this review, we discuss the key proteins mutated in MCPH. To date, MCPH-causing mutations have been identified in twelve different genes, many of which encode proteins that are involved in cell cycle regulation or are present at the centrosome, an organelle crucial for mitotic spindle assembly and cell division. We highlight recent findings on MCPH proteins with regard to their role in cell cycle progression, centrosome function, and early brain development.
常染色体隐性原发性小头畸形（MCPH）是一种罕见的遗传性神经发育障碍，其特征是脑容量显著减小和智力残疾。MCPH具有遗传异质性，可表现出与相关疾病重叠的其他临床特征，包括Seckel综合征、Meier-Gorlin综合征和小头骨发育异常性侏儒症。在本综述中，我们讨论了MCPH中发生突变的关键蛋白。迄今为止，已在12个不同基因中鉴定出导致MCPH的突变，其中许多基因编码的蛋白参与细胞周期调控或存在于中心体中，中心体是有丝分裂纺锤体组装和细胞分裂所必需的细胞器。我们重点介绍了关于MCPH蛋白在细胞周期进程、中心体功能和早期脑发育中的作用的最新研究结果。
