智力障碍/全面性发育迟缓遗传学诊断策略探讨

Genetic diagnosis strategy in children with intellectual disability/global developmental delay

目的探讨不明原因智力障碍/全面发育迟缓(ID/GDD)患儿遗传学检测策略。方法收集65例ID/GDD患儿外周血样本,行拷贝数变异(CNVs)检测,阴性样本行家系全外显子测序(trio-WES)。比较CNVs阳性组与单核苷酸变异(SNV)阳性组表型差异。将样本分为单独检测组(CNV-seq)和联合检测组(CNV-seq联合trio-WES),比较二者阳性率差异。结果联合检测组阳性率44.6%(29/65),单独检测组阳性率33.8%(22/65),阳性率有显著性差异。结论CNV-seq和trio-WES联合检测可提高阳性率。

Objective To explore the diagnostic strategy of genetics in children with unexplained intellectual disability/global developmental delay(ID/GDD).Methods The peripheral blood samples of 65 children with ID/GDD were collected and sequenced with CNV-seq.The negative samples were detected with trio-WES.The characteristics of clinical phenotype between CNVs positive group and SNV positive group were compared.The samples were divided into single detection group(CNV-seq)and combined detection group(CNV-seq combined with trio-WES),and the statistical significance of positive rate between two groups was compared.Results There was significant difference in positive rate between combined test group and single test group,44.6%(29/65)vs 33.8%(22/65),respectively.Conclusion The combined detection of CNV-seq and trio-WES may increase the positive rate.