Clinical and genetic analysis of a case with Nicolaides-Baraitser syndrome
10.3760/cma.j.issn.1003-9406.2020.02.011
- VernacularTitle:一例Nicolaides-Baraitser综合征的临床与遗传学分析
- Author:
Yanyan MA
1
;
Chunmei YU
;
Kaihui ZHANG
;
Ruifeng JIN
;
Yuqiang LYU
;
Min GAO
;
Zhongtao GAI
;
Yi LIU
Author Information
1. 山东大学齐鲁儿童医院儿科研究所
- Keywords:
Nicolaides-Baraitser syndrome;
SMARCA2 gene;
Next generation sequencing
- From:
Chinese Journal of Medical Genetics
2020;37(2):147-149
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the genetic etiology of a girl featuring epilepsy,speech delay and mild mental retardation.Methods Peripheral blood samples of the child and her parents were collected.Genomic DNA was extracted and subjected to next generation sequencing.Suspected variant was confirmed by Sanger sequencing.Results The child was found to carry a de novo heterozygous c.3592G＞ A (p.V1198M) variant of the SMARCA2 gene,which was predicted to be pathogenic by bioinformatic analysis.Conclusion The child was diagnosed with Nicolaides-Baraitser syndrome due to heterozygous variant of the SMARCA2 gene.
