ASNS Gene Variants and Splicing Abnormality in a Case of Asparagine Synthetase Deficiency

A dataset likely contains details on two novel compound heterozygous variants identified in the ASNS gene of a neonate with Asparagine Synthetase Deficiency. The data was authored by Weihong Zhang and uploaded to figshare on 2026-05-27. The file is 18.4 KB in size.

Use Cases

• Validate in silico splicing predictions based on the described missense variant c.1049A>G.
• Expand the mutational spectrum of ASNSD based on the reported novel compound heterozygous variants.
• Study the correlation between specific ASNS gene variants and clinical phenotypes like microcephaly and hypotonia.
• Analyze the functional impact of splice region disruptions based on the c.1031-6_1041del variant.

Strengths

• The dataset is associated with a specific, detailed clinical case description.
• It includes functional validation via in vitro splicing assays for one variant.
• The data is licensed under CC-BY-4.0, allowing for reuse.

Limitations

• The dataset is 18.4 KB, indicating a very limited scope likely focused on a single case.
• Column-level documentation is absent; field semantics must be inferred after download.
• Row count is unknown, which may limit suitability assessment.

Provenance

Source

figshare

Collection Method

Data likely derived from 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

The clinical case is from a Chinese family.