P4HTM基因变异致HIDEA综合征1例并文献复习

摘要

<正>智力障碍（intellectual disability, ID）是一大类具有高度临床和遗传异质性的神经发育障碍性疾病，是全球儿童致残的主要原因之一。随着遗传学研究的进展和对临床表型的深入认识，越来越多综合征型ID得以发现^[1]。其中，2014年首次报道P4HTM基因（OMIM#614584）变异可能与综合征型ID和发育迟缓（developmental delay, DD）有关，随后研究证实可引起肌张力低下-通气不足-智力障碍-自主神经功能障碍-癫痫-眼部异常（hypotonia,hypoventilation,intellectualdisability,dysautonomia,epilepsy,and eye abnormalities,HIDEA）综合征（OMIM#618493）^[2-3]。

关键词

P4HTM基因 / HIDEA综合征 / 智力障碍 / 眼部异常 / 通气障碍

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基金资助

四川省科技厅课题(2023JDKP0070);成都市医学科研课题(2023013);成都市高水平临床重点专科建设项目(202022)