[Analysis of NOVA2 gene variant in a child with Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities].

Researchers studied a child with developmental delays and possible autism features. They found a new genetic change in a gene called NOVA2 that likely caused the child's condition. This genetic change was not present in either parent, meaning it happened spontaneously. This discovery helps families understand the genetic cause and may help with future family planning decisions.

This case report describes a child with Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (NEDASB) found to carry a novel pathogenic variant in the NOVA2 gene. Genetic sequencing revealed a heterozygous c.820_828delinsCTTCA (p.Thr274Leufs*121) variant that was absent in both parents, indicating a de novo mutation. The variant was classified as pathogenic according to American College of Medical Genetics guidelines. This finding expands the known spectrum of NOVA2 gene variants associated with neurodevelopmental disorders and provides genetic information for family counseling and potential prenatal diagnosis.

This case contributes to genetic diagnostic capabilities for neurodevelopmental disorders. Supports genetic testing for NOVA2 variants in similar presentations. Provides basis for genetic counseling regarding de novo mutations and recurrence risks in future pregnancies.

Single case report limits generalizability. No functional studies to confirm pathogenicity. Limited clinical phenotype details provided. Sample size of one prevents broader conclusions about NOVA2 variants in autism spectrum disorders.

To explore the genetic basis for a child with Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (NEDASB). 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.

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. 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.