摘要
目的探索纤毛通路基因的罕见危害性基因变异对人腰骶部神经管畸形(NTDs)的致病性。方法AmpliSeq技术扩增49个纤毛通路基因的编码区序列,PGM测序平台筛查罕见危害性变异,以无NTD表型父母为对照筛选NTD相关致病性变异。结果1例患者存在GLI3基因的罕见新生突变(c.C580T,p.H194Y);1例患者存在CRB2基因的罕见复杂杂合突变(c.G1392C,p.R464S;c.T3448C,p.C1150R)。结论纤毛通路基因的罕见危害性变异可能与人类NTDs发生相关。
Objective To investigate the pathogenicity of rare damaging variants from ciliary pathway to human lumbosacral neural tube defects(NTDs).Methods The coding region sequences of 49 ciliary genes were amplified by AmpliSeq technique and sequenced by PGM sequencing platform for screening the rare damaging variants,and the parents without phenotype were used as controls to evaluate the pathogenicity of variants.Results The rare de novo mutation of GLI3 gene(c.C580T,p.H194Y)was detected in one patient.The rare complex heterozygous mutations of CRB2 gene(c.G1392C,p.R464S;c.T3448C,p.C1150R)was detected in another patient.Conclusion Rare damaging variants from ciliary pathway may be associated with the occurrence of human lumbosacral NTDs.
作者
汪静
刘芳
谢华
蔡春泉
姜宏
陈晓丽
Wang Jing;Liu Fang;Xie Hua;Cai Chunquan;Jiang Hong;Chen Xiaoli(Reproductive Medicine Center,The 901 Hospital of the Joint Logistic Support Force of the People′s Liberation Army,Hefei 230031;Beijing Municipal Key Laboratory of Child Development and Nutriomics,Capital Institute of Pediatrics,Beijing 100020;Dept of Neurosurgery,The Children’s Hospital of Tianjin,Tianjin 300074)
出处
《安徽医科大学学报》
CAS
北大核心
2022年第4期626-630,共5页
Acta Universitatis Medicinalis Anhui
基金
北京市自然科学基金(编号:7202019)
国家自然科学基金(编号:31671310)
首都卫生发展科研专项(编号:首发2020-2-1131)
安徽省科技攻关计划项目(编号:1604a0802095)。
