一例X连锁精神发育迟滞患儿的IQSEC2基因变异分析

Analysis of IQSEC2 gene variant in a child with X-linked mental retardation

目的分析一例IQSEC2基因变异引起X连锁精神发育迟滞患儿的临床表型和基因变异情况,为该病的诊断提供参考。方法运用靶向捕获二代测序技术(next generation sequencing,NGS)检测患儿基因变异情况,结合临床特点进行诊断。结果患者表现为全面发育迟缓,其中精细运动发育落后和语言能力发育落后更显著,临床怀疑精神发育迟滞。基因检测结果提示患儿IQSEC2基因c.1861dup杂合变异,父母未发现变异。结论IQSEC2基因c.1861dup变异引起蛋白功能改变是导致患儿X连锁精神发育迟滞的原因,本研究结果扩充了IQSEC2变异图谱,为类似患者的诊疗提供参照。

Objective To analyze the clinical phenotype and genetic variants of a child with X-linked mental retardation caused by IQSEC2 gene mutation,and provide reference for the diagnosis of the disease.Methods The child was subjected to next generation sequencing(NGS),and the diagnosis was made by taking consideration of her clinical characteristics.Results The child has presented with global developmental delay,particularly in fine motor skill and language development,in addition with intellectual disability.Genetic testing revealed that she has harbored a heterozygous c.1861dup variant of the IQSEC2 gene,which was not detected in either parent.Conclusion The de novo c.186ldup variant of the IQSEC2 gene probably underlay the X-linked mental retardation in this child.Above finding has,expanded the spectrum of IQSEC2 gene mutations and provide a basis for the diagnosis of similar cases.