二代测序技术确诊一例X连锁精神发育迟滞患儿

摘要

Objective To explore the clinical and genetic features of a Chinese boy featuring X-linked mental retardation.Methods Clinical features of the patient were analyzed.The DNA of the patient and his parents was extracted and sequenced by next generation sequencing.The results were validated and analyzed with software.Results The child displayed X-linked mental retardation.Sequencing showed the patient has carried a c.455T＞C (p.L152P) mutation of the GRIA3 gene inherited from his mother.Conclusion The c.455T＞C (p.L152P) mutation of the GRIA3 gene probably underlies the X-linked mental retardation in this child.%目的 对1例不明原因发育落后的患儿进行临床和遗传学分析.方法 对患儿进行临床检查,提取患儿及其父母基因组DNA,用二代测序技术对患儿基因组DNA进行测序分析,并对疑似致病性突变进行患儿及其父母的Sanger测序法验证,并进行生物信息学预测.结果 患儿精神发育迟滞,基因测序显示患儿GRIA3基因的第2外显子存在c.455T＞C (p.L152P)错义突变,遗传自母亲.生物信息学预测为致病性突变.结论 患儿诊断为GRIA3基因突变所致X连锁精神发育迟滞.