Research progress in neurodevelopmental disorder caused by KIF5C gene mutation

CHEN Yi-ru; CHEN Wen-xiong

doi:10.11852/zgetbjzz2022-0476

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Chinese Journal of Child Health Care ›› 2023, Vol. 31 ›› Issue (2) : 171-175. DOI: 10.11852/zgetbjzz2022-0476

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Research progress in neurodevelopmental disorder caused by KIF5C gene mutation

CHEN Yi-ru, CHEN Wen-xiong

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Abstract

KIF5C gene is the candidate gene of neurodevelopmental disorder such as autism spectrum disorder(ASD). KIF5C gene encodes KIF5C kinesin, which helps to transport cargos required for neurite maturation along microtubules for a long distance, and is important for neuronal development. The structure of KIF5C kinesin includes the head motor domain, stalk dimerization domain and tail domain. The exonic region of head motor domain is a common region of gene mutation, and intron mutation is occasionally reported. The c.709G>A is a hot spot mutation site, causing p.glu237lys amino acid mutation. KIF5C gene mutation causes the common neurodevelopment disorder in children, including malformation of cortical dysplasia (MCD), microcephaly, epilepsy, development delay/intellectual disability, autism-like features and so on. The mechanism of neurodevelopmental disorder caused by KIF5C gene mutation is not clear yet,but it might affect the ability of head motor domain to hydrolyze ATP. It is important to study the pathogenic mechanism of KIF5C gene mutation and its novel therapeutic interventions in depth. KIF5C gene therapy needs further study.

Key words

KIF5C gene / gene mutation / kinesin / neurodevelopment disorder / children

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CHEN Yi-ru, CHEN Wen-xiong. Research progress in neurodevelopmental disorder caused by KIF5C gene mutation[J]. Chinese Journal of Child Health Care. 2023, 31(2): 171-175 https://doi.org/10.11852/zgetbjzz2022-0476

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