Preliminary study on genetic factors in the pathogenesis of cerebral palsy

HU Hao; QI Yi-fei

doi:10.11852/zgetbjzz2022-0177

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Chinese Journal of Child Health Care ›› 2022, Vol. 30 ›› Issue (3) : 237-239. DOI: 10.11852/zgetbjzz2022-0177

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Preliminary study on genetic factors in the pathogenesis of cerebral palsy

HU Hao, QI Yi-fei

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Abstract

Cerebral palsy is the most prevalent physical disability in children. However, its inherent molecular mechanisms remain unclear.More and more evidences have showed that genetic factors play a pivotal role in the pathogenesis of cerebral palsy.Our research team has performed in-depth clinical and molecular analysis on 120 idiopathic cerebral palsy families, and identified underlying detrimental genetic variants in 45% of these patients.By a compilation of 114 known cerebral-palsy-related genes, characteristic features has been identified in terms of inheritance and function, from which a dichotomous classification system are proposed according to the expression patterns of these genes and associated cognitive impairments.Using this algorithm, the pathogenic mechanisms of two representative gene mutations, TYW1 and GPAM, are explored in depth.Taken together, our findings provide a novel and interesting mechanism for the etiology of cerebral palsy and insights for future therapeutic strategies.

Key words

cerebral palsy / genetic factor / disease-causing mutation / dichotomous classification system

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HU Hao, QI Yi-fei. Preliminary study on genetic factors in the pathogenesis of cerebral palsy[J]. Chinese Journal of Child Health Care. 2022, 30(3): 237-239 https://doi.org/10.11852/zgetbjzz2022-0177

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