ASNS Gene Variants and Splicing Abnormality in Asparagine Synthetase Deficiency

A case study from a Chinese family identifies two novel compound heterozygous variants in the ASNS gene linked to Asparagine Synthetase Deficiency. Functional validation via in vitro splicing assays confirmed a missense variant causes partial deletion of Exon 9. The dataset, authored by Weihong Zhang and last updated in May 2026, is a 11.1 KB document shared under a CC-BY-4.0 license.

Use Cases

• Studying the mutational spectrum of ASNSD based on the description of novel compound heterozygous variants.
• Investigating splicing dysregulation mechanisms based on the functional validation of a missense variant.
• Analyzing genotype-phenotype correlations in rare genetic disorders based on the clinical assessment of a neonate with microcephaly and hypotonia.

Strengths

• Includes functional validation via in vitro splicing assays for a novel variant.
• Describes specific genetic variants (c.1031-6_1041del and c.1049A>G) and their predicted pathogenic impact.
• Released under a permissive CC-BY-4.0 license for reuse.

Limitations

• Dataset is a single 11.1 KB document, indicating a very limited scope focused on one case.
• Column-level documentation is absent; field semantics must be inferred after download.
• Data may reflect geographic bias inherent to the single case study from a Chinese family.

Provenance

Source

figshare

Collection Method

Clinical assessment and whole-exome sequencing of a single patient case.

Freshness

Last updated 2026-05-27 22:01:57; freshness should be verified.

Geography

Likely China, based on the description of a Chinese family.