Two cases of Cornelia de Lange syndrome type 2 for SMC1A gene mutations
10.3760/cma.j.cn101070-20200709-01152
- VernacularTitle:SMC1A基因新生突变致Cornelia de Lange综合征2型2例
- Author:
Changjian YANG
;
Qingyang DOU
;
Xing YUAN
;
Xiaomei SHU
- From:
Chinese Journal of Applied Clinical Pediatrics
2021;36(10):783-785
- CountryChina
- Language:Chinese
-
Abstract:
The clinical features and gene mutation characteristics of 2 children who suffered from Cornelia de Lange syndrome(CdLs)and were admitted to Affiliated Hospital of Zunyi Medical University in March 2019 were retrospectively analyzed.The 2 cases developed in infancy and presented with intractable epilepsy were accompanied with developmental retardation and special appearance.It was obvious that the 2 children had SMC1A gene mutations on X chromosome.Case 1 was frameshift mutations in the SMC1A gene at c. 2561dupA(p.K854fs), and case 2 was mutations in the SMC1A gene at c. 3441+ 1G>A(exon24)splicing mutation.These were heterozygous de novo mutations, and weren′t detected in their parents, which was not reported in literatures.In this study, 2 cases of CdLs were caused by SMC1A gene mutation, which enriched the human gene mutation database.CdLs should be considered in children with early-onset epilepsy, especially appearance and developmental retardation.Genetic testing is the most important diagnostic method.
