摘要目的:分析1例 DDX3X基因变异所致X连锁精神发育迟滞患儿的临床特征和基因检测结果。 方法:采用全外显子组测序和Sanger测序分别进行变异检测和家系验证，同时对 DDX3X基因变异患者的临床资料进行文献复习。 结果:患儿携带 DDX3X基因的一个杂合新发变异NM_001193416.3：c.1332_1333delCT(p.Leu445Serfs*19)，其父母均未携带相同变异。 结论:确诊了1例 DDX3X基因变异所致的X连锁精神发育迟滞患儿，扩大了 DDX3X基因的变异谱，为患儿的临床诊断和家系的产前诊断提供了参考。

abstractsObjective:To analyze the clinical characteristics and genetic variant of a child featuring X-linked mental retardation.Methods:Whole exome sequencing and Sanger sequencing were used for the detection of variant and pedigree validation, respectively. Clinical manifestation of patients with DDX3X gene variants were also reviewed. Results:The child was found to harbor a heterozygous NM_001193416.3: c. 1332_1333delCT (p.Leu445Serfs*19) variant of the DDX3X gene. The same variant was not found in either of her parents. Conclusion:The child was diagnosed with X-linked mental retardation due to variant of the DDX3X gene. Above finding has enriched the spectrum of DDX3X gene variants and provided a basis for clinical diagnosis and prenatal diagnosis for this pedigrees.