ASNS Gene Variants and Splicing Assay Results for Asparagine Synthetase Deficiency

Two novel compound heterozygous variants in the ASNS gene were identified in a neonate with Asparagine Synthetase Deficiency. The dataset likely contains results from whole-exome sequencing and in vitro splicing assays, published by Weihong Zhang in May 2026. Its 23.3 KB size suggests a focused scope on the specific genetic variants and their functional validation.

Use Cases

• Validate in silico splicing prediction tools based on experimentally confirmed missense variants.
• Study genotype-phenotype correlations in Asparagine Synthetase Deficiency based on clinical assessment data.
• Expand the mutational spectrum of rare neurodevelopmental disorders based on novel compound heterozygous variants.
• Analyze the impact of splice-region disruptions based on the c.1031-6_1041del variant classified as likely pathogenic.

Strengths

• Includes functional validation via in vitro splicing assays, confirming a pathogenic mechanism.
• Documents two novel compound heterozygous variants, expanding known genetic causes of ASNSD.
• Provides a comprehensive clinical assessment of the proband, linking genotype to phenotype.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• Data is from a single case study, limiting generalizability.

Provenance

Source

figshare, author Weihong Zhang

Collection Method

Whole-exome sequencing and in vitro splicing assays performed on a clinical case.

Freshness

Last updated 2026-05-27 22:01:58; freshness should be verified.

Geography

Case is from a Chinese family.