Primary microcephaly (MCPH) is an autosomal recessive sporadic neurodevelopmental ailment with a trivial head size characteristic that is below 3-4 standard deviations. MCPH is the smaller upshot of an architecturally normal brain; a significant decrease in size is seen in the cerebral cortex. At birth MCPH presents with non-progressive mental retardation, while secondary microcephaly (onset after birth) presents with and without other syndromic features. MCPH is a neurogenic mitotic syndrome nevertheless pretentious patients demonstrate normal neuronal migration, neuronal apoptosis and neural function. Eighteen MCPH loci (MCPH1-MCPH18) have been mapped to date from various populations around the world and contain the following genes: Microcephalin, WDR62, CDK5RAP2, CASC5, ASPM, CENPJ, STIL, CEP135, CEP152, ZNF335, PHC1, CDK6, CENPE, SASS6, MFSD2A, ANKLE2, CIT and WDFY3, clarifying our understanding about the molecular basis of microcephaly genetic disorder. It has previously been reported that phenotype disease is caused by MCB gene mutations and the causes of this phenotype are disarrangement of positions and organization of chromosomes during the cell cycle as a result of mutated DNA, centriole duplication, neurogenesis, neuronal migration, microtubule dynamics, transcriptional control and the cell cycle checkpoint having some invisible centrosomal process that can manage the number of neurons that are produced by neuronal precursor cells. Furthermore, researchers inform us about the clinical management of families that are suffering from MCPH. Establishment of both molecular understanding and genetic advocating may help to decrease the rate of this ailment. This current review study examines newly identified genes along with previously identified genes involved in autosomal recessive MCPH.

中文翻译：

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常染色体隐性遗传性小头畸形（MCPH）分子遗传学的全面综述。

原发性小头畸形（MCPH）是一种常染色体隐性遗传性散发性神经发育疾病，其头部大小特征低于3-4个标准差。MCPH是结构正常的大脑的较小结果；大脑皮层的大小明显减少。出生时MCPH表现为非进行性智力低下，而继发性小头畸形（出生后发作）表现为有或没有其他症状。MCPH是一种神经源性有丝分裂综合征，但自命不凡的患者表现出正常的神经元迁移，神经元凋亡和神经功能。迄今为止，已从世界各地的不同人群中绘制出18个MCPH基因座（MCPH1-MCPH18），并包含以下基因：Microcephalin，WDR62，CDK5RAP2，CASC5，ASPM，CENPJ，STIL，CEP135，CEP152，ZNF335，PHC1，CDK6，CENPE ，SASS6，MFSD2A，ANKLE2，CIT和WDFY3，阐明了我们对小头症遗传障碍的分子基础的理解。以前有报道说，表型疾病是由MCB基因突变引起的，而这种表型的原因是由于DNA突变，中心粒重复，神经发生，神经元迁移，微管动力学，转录控制和细胞周期检查点具有一些看不见的中心体过程，可以控制神经元前体细胞产生的神经元数量。此外，研究人员向我们介绍了患有MCPH的家庭的临床治疗情况。建立分子理解和遗传倡导两者可能有助于降低这种疾病的发生率。