GRIN1突变相关发育迟缓患儿临床特征和基因突变特点分析

Analysis of clinical and genetic characteristics of GRIN1 mutation-related underdevelopment

目的对GRIN1基因突变相关发育迟缓患儿的临床特征及基因突变特点进行分析。方法收集2例发育迟缓患儿的临床资料,对2例患儿及其父母进行靶向基因测序(TGS)。结合文献分析发育迟缓患儿的临床特征和基因突变特点。结果2例患儿均表现为精神发育迟缓、语言落后、运动落后,无特殊面容,无癫痫,其中1例合并矮小症。TGS结果显示,2例患儿均存在GRIN1基因变异,1例为“错义变异c.1672T>G,p.Phe558Val(杂合)”,1例为“错义变异c.1852G>A,p.Gly618Ser(杂合)”,2例患儿的父母该位点均为正常基因型。结论2例发育迟缓患儿的GRIN1基因变异为新发现的变异。TGS有助于明确发育迟缓患儿的分子机制。

Objective To analyze clinical and genetic characteristics of GRIN1 mutation-related underdevelopment.Methods Clinical data of 2 developmental retardation children were collected,and targeted gene sequencing(TGS)was performed in the 2 children and their parents.The clinical and genetic characteristics of developmental retardation children were analyzed together with literature review.Results The 2 children showed mental retardation,language backwardness,motor backwardness,no special face or epilepsy.One of them was complicated with dwarfism.The results of TGS showed that there were mutations in GRIN1 gene of the 2 children.One had missense variant c.1672t>G,p.Phe558Val(heterozygous),and the other had missense variant c.1852g>A,p.Gly618Ser(heterozygous).Both of their parents were normal at the same gene loci.Conclusion GRIN1 genetic mutation on the developmental retardation children is newly discovered.TGS is helpful to make clear the molecular mechanism of developmental retardation.