Analysis of clinical characteristics and genetic variant in a child with Nicolaides-Baraitser syndrome due to maternal mosaicism.
10.3760/cma.j.cn511374-20211220-01006
- VernacularTitle:一例母系嵌合的Nicolaides-Baraitser综合征患儿的临床特征及基因变异分析
- Author:
Xiao LIU
1
;
Qiuping YANG
;
Congcong SHI
;
Hu HAO
;
Xin XIAO
;
Sitao LI
Author Information
1. Department of Pediatrics, the Sixth Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510655, China. lisit@mail.sysy.edu.cn.
- Publication Type:Journal Article
- MeSH:
Child;
Female;
Humans;
Mosaicism;
Parents;
Developmental Disabilities;
Mothers
- From:
Chinese Journal of Medical Genetics
2022;39(12):1366-1369
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To carry out genetic testing for a child featuring global developmental delay, abnormal liver function, congenital heart disease, and brain malformation.
METHODS:Peripheral blood samples of the child and his parents were collected for the extraction of genomic DNA and trio-whole exome sequencing. Candidate variant was verified by Sanger sequencing.
RESULTS:Genetic testing revealed that the child has harbored a heterozygous c.2002G>T (p.Glu668Ter) variant of the SMARCA2 gene, which was predicted to be likely pathogenic by bioinformatic analysis. His mother was found to be a low-percentage mosaic for the same variant, with a ratio of 0.054 (246/4549).
CONCLUSION:The child was diagnosed with Nicolaides-Baraitser syndrome resulting from maternal mosaicism for the SMARCA2 gene variant.
