临床儿科杂志 ›› 2020, Vol. 38 ›› Issue (9): 704-.doi: 10.3969/j.issn.1000-3606.2020.09.015

• 综合报道 • 上一篇    

Coffin-Siris 综合征1 例报告

方丹枫 1, 叶斌 1, 余永国 2, 张志刚 1, 李星 1   

  1. 1.台州市中心医院(台州医学院附属医院)儿内科(浙江台州 318000);2.上海交通大学医学院附属 新华医院儿童内分泌遗传科(上海 200092)
  • 发布日期:2020-09-17

Coffin-Siris syndrome: a case report

 FANG Danfeng1, YE Bin1, YU Yongguo2, ZHANG Zhigang1, LI Xing1   

  1. 1.Department of Pediatrics, Taizhou Central Hospital, Taizhou University School of Medicine, Taizhou 31800, Zhejiang, China; 2.Department of Endocrinology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China
  • Published:2020-09-17

摘要: 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.Ser2228*)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。

关键词: Coffin-Siris 综合征; ARID1B基因; 临床表型

Abstract: 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.

Key words: Coffin-Siris syndrome; ARID1B gene; clinical phenotype