Coffin-Siris综合征1例报告

Coffin-Siris syndrome:a case report

目的探讨Coffin-Siris综合征的临床表型及基因异常。方法回顾分析1例利用高通量测序技术确诊的Coffin-Siris综合征患儿的临床资料,并复习相关文献。结果患儿,男,生后即出现喂养困难、生长发育落后伴特殊面容。基因检测显示ARID1B基因c.6683C>A(p.Ser 2228*)变异,为新发变异,预测有致病性。结论Coffin-Siris综合征为罕见遗传性疾病,早期临床诊断困难,基因检测有助确诊。

Objective To explore the clinical phenotype and gene abnormality of Coffin-Siris syndrome.Method The clinical data of Coffin-Siris syndrome in a child diagnosed by high-throughput sequencing technology were retrospectively analyzed,and the related literature was reviewed.Results A male child had feeding difficulties,growth retardation and special facial features after birth.Gene detection showed a mutation of c.6683C>A(p.Ser2228*)in ARID1B gene,,which was a de novo mutation and predicted to be pathogenic.Conclusion Coffin-Siris syndrome is a rare genetic disease and is difficult to diagnose in early stage,and genetic testing helps the diagnosis.