NDP基因突变致Norrie病基因分析及产前诊断1例  

Gene analysis and prenatal diagnosis of one case of Norrie disease caused by NDP gene mutation

作　　者：丁风娟 乔昕[2] 侯菲[1] 金华[1] Ding Fengjuan;Qiao Xin;Hou Fei;Jin Hua(Prenatal Diagnosis Center of Jinan Maternal and Child Health Hospital,Jinan 250001,China;Department of Pediatrics,Jinan Maternal and Child Health Hospital,Jinan 250001,China)

机构地区：[1]济南市妇幼保健院产前诊断中心,济南250001 [2]济南市妇幼保健院儿科,济南250001

出　　处：《国际遗传学杂志》2024年第3期234-237,共4页International Journal of Genetics

基　　金：山东省医药卫生科技发展计划项目(202105030122);国家重点研发计划(2021YFC1005303);济南市科技计划项目(2023-2-117)。

摘　　要：目的探讨1例Norrie病患儿的临床表型及其遗传学特点。方法分析患儿的临床资料, 并进行家系医学全外显子检测;母亲再次妊娠后行羊水穿刺, 同时抽取羊水行染色体核型分析及医学全外显子检测。结果患儿检测到NDP基因半合变异c.242245delinsCT(p.F81Sfs*67), 该变异来源于母亲。羊水穿刺染色体核型结果正常, 医学全外显子同样检测到NDP基因半合变异。结论该案例扩大了NDP基因的突变谱, 进一步促进了对Norrie病分子机制的认识, 并为探索Norrie病基因型与表型的关系提供了基础。Objective To explore the clinical phenotype and genetic characteristics of a child with Norrie disease.Methods The clinical data of the children were analyzed,and family medical whole-exome testing was performed.After the mother became pregnant again,amniocentesis was performed,and amniotic fluid was extracted for karyotype analysis and medical whole-exome testing.Results The hemizygous NDP gene variant c.242_245delinsCT(p.F81Sfs*67)was detected in the child,which originated from the mother.The amniocentesis karyotype results were normal,and the medical full exome also detected a hemizygous variant of the NDP gene.Conclusion This case expands the mutation spectrum of the NDP gene,further promotes the understanding of the molecular mechanism of Norrie disease,and provides a basis for exploring the relationship between Norrie disease genotype and phenotype.

关 键 词：Norrie病 NDP基因 产前诊断 全外显子检测 

分 类 号：R725.9[医药卫生—儿科]