[两名中国科芬-西里斯综合征1型患者的临床特征与基因分析]
[Clinical features and genetic analysis of two Chinese patients with Coffin Siris syndrome-1].
作者信息
Che Fengyu, Yang Ying, Zhang Liyu, Tie Xiaoling
机构信息
Research Institute of Pediatric Diseases of Shaanxi province, Xi'an Children's Hospital, Xi'an, Shaanxi 710003, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Aug 10;39(8):848-853. doi: 10.3760/cma.j.cn511374-20210615-00501.
OBJECTIVE
To explore the genetic basis for two unrelated patients with global developmental delay and coarse facial features.
METHODS
Clinical data and family history of the two pedigrees were collected. Whole exome sequencing and Sanger sequencing were carried out to detect potential variants.
RESULTS
The two patients have presented with global developmental delay, coarse facies, muscular hypotonia, congenital heart disease, and pectus excavatum, and were found to harbor two de novo loss-of-function variants of the ARID1B gene, namely c.3586delC (p.Gln1196Serfs15) and c.4954_4957delACGT (p.Thr1652Glyfs31). Both variants were unreported previously.
CONCLUSION
The nonsense variants of the ARID1B gene probably underlay the etiology in these patients. Above finding has enriched the genotypic and phenotypic spectrum of the disease and provided a basis for prenatal diagnosis.
目的
探究两名无血缘关系的全球发育迟缓且面部特征粗糙患者的遗传基础。
方法
收集两个家系的临床资料和家族史。进行全外显子组测序和桑格测序以检测潜在变异。
结果
两名患者均表现为全球发育迟缓、面容粗糙、肌张力低下、先天性心脏病和漏斗胸，且发现携带ARID1B基因的两个新生功能丧失性变异，即c.3586delC（p.Gln1196Serfs15）和c.4954_4957delACGT（p.Thr1652Glyfs31）。这两个变异此前均未被报道。
结论
ARID1B基因的无义变异可能是这些患者病因的基础。上述发现丰富了该疾病的基因型和表型谱，并为产前诊断提供了依据。
Zotero 插件