J Mol Neurosci 2021 Jul 16. Epub 2021 Jul 16.
Center of Prenatal Diagnosis, Women and Children's Hospital, Xiamen University, Siming District, 10 Zhenhai Road, 361001, P.R. China, Xiamen, Fujian.
Autosomal recessive microcephaly and chorioretinopathy (MCCRP) is a neurodevelopmental disorder characterized by delayed psychomotor development, growth retardation with dwarfism, and ocular abnormalities, and its occurrence has been found to be closely related to variants of the gene encoding centrosomes. However, the association between centrosomal duplication defects and the etiology of microcephaly syndromes is poorly understood. It is well known that polo-like kinase 4 (PLK4) is a key regulator of centriole duplication, and the abnormalities of centrosomal function caused by its protein variation need to be further explored in the pathogenesis of microcephaly. Read More