Analysis of NOVA2 gene variant in a child with Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities.
10.3760/cma.j.cn511388-20211014-00814
- Author:
Guangyu ZHANG
1
;
Sansong LI
;
Lei YANG
;
Mingmei WANG
;
Gongxun CHEN
;
Dengna ZHU
Author Information
1. Department of Children's Rehabilitation, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. zhudengna@126.com.
- Publication Type:Journal Article
- MeSH:
Child;
Female;
Humans;
Pregnancy;
Autistic Disorder/genetics*;
Brain;
Computational Biology;
Genetic Counseling;
Mutation;
Nerve Tissue Proteins/genetics*;
Neuro-Oncological Ventral Antigen;
Neurodevelopmental Disorders;
RNA-Binding Proteins
- From:
Chinese Journal of Medical Genetics
2023;40(2):213-216
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a child with Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (NEDASB).
METHODS:A child with NEDASB who presented at the Third Affiliated Hospital of Zhengzhou University in July 2021 was selected as the subject. Peripheral blood samples of the child and her parents were collected and subjected to high-throughput sequencing. Candidate variant was verified by Sanger sequencing and bioinformatic analysis.
RESULTS:The child was found to harbor a heterozygous c.820_828delinsCTTCA (p.Thr274Leufs*121) variant of the NOVA2 gene, for which both of her parents were of wild type. The variant was predicted as pathogenic based on the guidelines from the American College of Medical Genetics and Genomics.
CONCLUSION:The heterozygous c.820_828delinsCTTCA (p.Thr274Leufs*121) variant of the NOVA2 gene probably underlay the disease in this child. Above finding has enriched the spectrum of NOVA2 gene variants and provided a basis for genetic counseling and prenatal diagnosis for this family.
