Congenital hydrocephalus:a review of recent advances in genetic etiology and molecular mechanisms  

作　　者：Xiu-Yun Liu Xin Song Marek Czosnyka Chiara Robba Zofia Czosnyka Jennifer Lee Summers Hui-Jie Yu Guo-Yi Gao Peter Smielewski Fang Guo Mei-Jun Pang Dong Ming 

机构地区：[1]Medical School,Tianjin University,Tianjin 300072,China [2]State Key Laboratory of Advanced Medical Materials and Devices,Tianjin University,Tianjin 300072,China [3]Haihe Laboratory of Brain-Computer Interaction and Human-Machine Integration,Tianjin 300380,China [4]School of Pharmaceutical Science and Technology,Tianjin University,300072 Tianjin,China [5]Department of Clinical Neurosciences,Addenbrooke’s Hospital,University of Cambridge,Cambridge CB20QQ,UK [6]San Martino Policlinico Hospital,IRCCS for Oncology and Neuroscience,16132 Genoa,Italy [7]Department of Anesthesiology and Critical Care Medicine,Johns Hopkins University,Baltimore,MD 21287,USA [8]Department of Neurosurgery,Tianjin Medical University General Hospital,Tianjin 300052,China [9]Department of Neurosurgery,Beijing Tiantan Hospital,Capital Medical University,Beijing 100070,China [10]Department of Neurosurgery,Tianjin Huanhu Hospital,Tianjin 300350,China

出　　处：《Military Medical Research》2024年第6期942-958,共17页军事医学研究(英文版)

基　　金：supported by the National Key Research and Development Program of China(2021YFF1200602).

摘　　要：The global prevalence rate for congenital hydrocephalus(CH)is approximately one out of every five hundred births with multifaceted predisposing factors at play.Genetic influences stand as a major contributor to CH pathogenesis,and epidemiological evidence suggests their involvement in up to 40%of all cases observed globally.Knowledge about an individual’s genetic susceptibility can significantly improve prognostic precision while aiding clinical decision-making processes.However,the precise genetic etiology has only been pinpointed in fewer than 5%of human instances.More occurrences of CH cases are required for comprehensive gene sequencing aimed at uncovering additional potential genetic loci.A deeper comprehension of its underlying genetics may offer invaluable insights into the molecular and cellular basis of this brain disorder.This review provides a summary of pertinent genes identified through gene sequencing technologies in humans,in addition to the 4 genes currently associated with CH(2 X-linked genes L1CAM and AP1S2,2 autosomal recessive MPDZ and CCDC88C).Others predominantly participate in aqueduct abnormalities,ciliary movement,and nervous system development.The prospective CH-related genes revealed through animal model gene-editing techniques are further outlined,focusing mainly on 4 pathways,namely cilia synthesis and movement,ion channels and transportation,Reissner’s fiber(RF)synthesis,cell apoptosis,and neurogenesis.Notably,the proper functioning of motile cilia provides significant impulsion for cerebrospinal fluid(CSF)circulation within the brain ventricles while mutations in cilia-related genes constitute a primary cause underlying this condition.So far,only a limited number of CH-associated genes have been identified in humans.The integration of genotype and phenotype for disease diagnosis represents a new trend in the medical field.Animal models provide insights into the pathogenesis of CH and contribute to our understanding of its association with related complications,such as renal cyst

关 键 词：Congenital hydrocephalus Genetic disease Central system CILIA VENTRICLE 

分 类 号：R73[医药卫生—肿瘤]