【摘要】 患儿，男，5岁3个月，临床表现为智力障碍、孤独症谱系障碍、身材矮小、长耳、耳廓大、鼻尖宽、尖下巴和隐睾，全外显子组测序显示患儿KDM3B基因存在c.5147T>C(p.Leu1716Pro)新发可能致病性杂合错义变异，该患儿诊断为Diets-Jongmans综合征。该例报道进一步丰富了Diets-Jongmans综合征的基因变异谱，提示早期进行基因检测有助于发育迟缓或智力障碍、孤独症谱系障碍及身材矮小患儿明确病因。更多还原

【Abstract】 A 5-year-3-month-old boy presented with intellectual disability, autism spectrum disorder, short stature, long ears, large auricles, a broad nasal tip, a pointed chin, and cryptorchidism. Whole-exome sequencing revealed a de novo likely pathogenic heterozygous missense variant in KDM3B(c.5147T>C, p.Leu1716 Pro), supporting a diagnosis of Diets-Jongmans syndrome. This case further enriches the mutation spectrum of Diets-Jongmans syndrome and suggests that early genetic testing helps clarify the etiology in children with developmental delay or intellectual disability, autism spectrum disorder, and short stature.更多还原