一例Coffin-Siris综合征患儿的临床表型及遗传学分析

Clinical features and genetic analysis of a case with Coffin-Siris syndrome

目的探讨1例Coffin-Siris综合征患儿的临床表现及基因组异常。方法应用单核苷酸多念性微阵列芯片对患儿进行令基因组水平的微缺失／微重复检测，用实时荧光定量PCR进行结果验证。结果患儿删毛浓密，前额发际线较低。左眼睑下垂，鼻梁扁平，肌张力减退、翻身困难，头喜欢后仰，脚趾甲较短；双下肢持重欠佳，无主动抓握动作，骨密度低，且存在佝偻病的特征。头部磁共振未见明显异常。常规染色体检查未她异常，染色体芯片与荧光定量技术检测发现6q25．3区包含ARID1B基因在内的1．3Mb的杂合缺火，双亲往该区域未见异常。结论患儿6q25．3区域的微缺失是导致其发生Coffin-Siris综合征的遗传学病闪，该病可能合并佝偻病症状。

Objective To explore the clinical features and genomic abnormality of a patient with Coffin-Siris syndrome. Methods Microdeletion and microduplication were detected with chromosomal microarray analysis （CMA） and verified with real-time quantitative PCR. Results The patient, a 6-month- old boy, featured global development delay, thick eyebrows, low frontal hairline, long eyelash, flat nasal bridge, hypotonia, difficulty in turning over, over stretching of head, and hypoplatic nails. He could not stand stability or actively grasp. He also has characteristics of rickets. Chromosome karyotype of the patient was normal. Genomic analysis has detected a 1.3 Mb deletion in 6q25.3 region encompassing the ARIDIB gene. Neither of his parents was found to harbor the same deletion. Conclusion The 6q25.3 microdeletion probably underlies the Coffin-Siris syndrome in this patient, and rickets may be part of its clinical spectrum.