目的 探讨ARID 1 B基因变异致Coffin-Siris综合征的临床及遗传特征。方法 回顾分析1例ARID 1 B基因变 异致Coffin-Siris综合征患儿的临床资料及分子遗传学检测结果，并复习相关文献。结果 患儿，男，2岁8个月，因智力运 动发育落后就诊。患儿生后就有喂养困难，体质量增长不良，特殊面容（头皮毛发稀疏、发际低、拱形浓眉、长睫毛、鼻翼宽、 鼻梁低、上唇薄、下唇厚而外翻、唇毛明显），四肢肌张力低下，右足趾甲小。全外显子测序显示ARID1B基因存在c.6257T>C （p.Leu 2086 Pro）杂合错义变异，父母未发现上述变异，为新生变异。文献共检索到已报道因ARID 1 B基因所致Coffin-Siris 综合征患者86例，患儿临床特征与已报道病例基本相符。结论 Coffin-Siris综合征为罕见的常染色体显性遗传病，可累及 多个系统，基因检测可协助诊断。

Objective To explore the clinical and gene characteristics of Coffin-Siris syndrome caused by ARID 1 B mutation. Methods The clinical data and molecular genetic test results of Coffin-Siris syndrome caused by ARID 1 B gene mutation in a child were retrospectively analyzed, and the relevant literature was reviewed. Results A 2 -year- and 8 -month-old was brought to clinic for psychomotor retardation. He had difficulties in feeding and poor weight gain after birth. He presented a distinctive facial appearance including sparse scalp hair, low frontal hairline, arched shaggy eyebrows, long eyelashes, broad nasal tip, flat nasal bridge, thin upper lip, a thick and everted lower lip and thick lip hair. He had hypotonia and small toenails in right foot. A heterozygous missense mutation of c. 6257 T>C (p.Leu 2086 Pro) in ARID 1 B gene was found in the child by whole exome sequencing, which was not found in his parents and was a new variant. A total of 86 reported cases of Coffin-Siris syndrome caused by ARID1 B gene mutation were retrieved through literature search. The clinical characteristics of the patients were basically consistent with the reported cases. Conclusion Coffin-Siris syndrome is a rare autosomal dominant genetic disease that can involve multiple systems, and genetic testing can help diagnose.