Analysis of SMARCA2 gene mutation in a child with Nicolaides-Baraitser syndrome
10.3760/cma.j.issn.1003-9406.2019.12.009
- VernacularTitle: 一例Nicolaides-Baraitser综合征患儿SMARCA2基因的变异分析
- Author:
Xuyun HU
1
,
2
,
3
,
4
;
Ruolan GUO
1
,
2
,
3
,
4
;
Jun GUO
1
,
2
,
3
,
4
;
Wei LI
1
,
2
,
3
,
4
;
Li LIU
5
;
Chanjuan HAO
1
,
2
,
3
,
4
Author Information
1. National Children’s Medical Center, Beijing Children’s Hospital Affiliated to Capital Medical University, Center for Genetics and Birth Defect Prevention and Control
2. Beijing Institute of Pediatrics, Beijing Key Laboratory of Genetics Research on Birth Defects
3. Key Laboratory of the Ministry of Education for Major Pediatric Diseases, Beijing 100045, China
4. Henan Key Laboratory of Pediatric Inherited & Metabolic Diseases, Henan Children’s Hospital, Zhengzhou Hospital of Beijing Children’s Hospital, Zhengzhou, Henan, 450018, China
5. Health Center of Beijing Children’s Hospital Affiliated to Capital Medical University, Beijing 100045, China
- Publication Type:Clinical Trail
- Keywords:
Nicolaides-Baraitser syndrome;
SMARCA2 gene;
Whole exome sequencing;
Genetic diagnosis
- From:
Chinese Journal of Medical Genetics
2019;36(12):1187-1190
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the molecular basisfor a child featuring short stature, abnormal facial features and developmental delay.
Methods:Genomic DNA was extracted from peripheral blood samples from the child and his family members. Next-generation sequencing was carried out to screen the whole exomes of the core family. Detected variants were filtered and analyzed according to the standards and guidelines for the interpretation of sequence variants recommended by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Results:Trio-based sequencing has identified a de novo variant c. 3593T>G (p.Val1198Gly) in the SMARCA2gene in the patient. The variant was located in the Helicase C-terminal domain and was classified as pathogenic based on the guidelines.
Conclusion:The patient was diagnosed with Nicolaides-Baraitser syndrome caused by SMARCA2 gene mutation.
