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首页> 外文期刊>Human mutation >Autosomal recessive primary microcephaly due to ASPM ASPM mutations: An update
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Autosomal recessive primary microcephaly due to ASPM ASPM mutations: An update

机译：由于ASPM ASPM突变导致的常染色体隐性原发性微微术：更新

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Abstract Autosomal recessive microcephaly or microcephaly primary hereditary (MCPH) is a genetically heterogeneous neurodevelopmental disorder characterized by a reduction in brain volume, indirectly measured by an occipitofrontal circumference (OFC) 2 standard deviations or more below the age‐ and sex‐matched mean (?2SD) at birth and ?3SD after 6 months, and leading to intellectual disability of variable severity. The abnormal spindle‐like microcephaly gene ( ASPM ), the human ortholog of the Drosophila melanogaster “abnormal spindle” gene ( asp ), encodes ASPM, a protein localized at the centrosome of apical neuroprogenitor cells and involved in spindle pole positioning during neurogenesis. Loss‐of‐function mutations in ASPM cause MCPH5, which affects the majority of all MCPH patients worldwide. Here, we report 47 unpublished patients from 39 families carrying 28 new ASPM mutations, and conduct an exhaustive review of the molecular, clinical, neuroradiological, and neuropsychological features of the 282 families previously reported (with 161 distinct ASPM mutations). Furthermore, we show that ASPM‐related microcephaly is not systematically associated with intellectual deficiency and discuss the association between the structural brain defects (strong reduction in cortical volume and surface area) that modify the cortical map of these patients and their cognitive abilities.
机译：摘要常染色体隐性微骨缺口或微孕术（Miccophaly初级遗传（MCPH）是一种遗传异质神经发育障碍，其特征在于脑体积降低，通过枕圆形圆周（OFC）2标准偏差或更低于年龄和性别匹配的平均值（？ 2SD）在出生时和？3SD在6个月后，导致可变严重程度的智力残疾。异常的主轴状微微畸形基因（ASPM），果蝇的人矫肌滴注体“异常主轴”基因（ASP），编码ASPM，蛋白质在神经发生期间涉及主轴杆定位。 ASPM中的功能突变导致MCPH5影响全球所有MCPH患者的大部分。在这里，我们报告来自携带28个新ASPM突变的39个家庭的未发表患者，并对先前报告的282个家族的分子，临床，神经加理学和神经心理特征进行详尽的审查（具有161个不同的ASPM突变）。此外，我们表明，与智力缺乏有关的ASPM相关的微头畸形并讨论结构脑缺损（皮质体积和表面积的强度降低）之间的关联，其改变这些患者的皮质地图及其认知能力。

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