ASNS Gene Variants and Splicing Assay Results for Asparagine Synthetase Deficiency

A Chinese family case study of Asparagine Synthetase Deficiency (ASNSD) involving a neonate with microcephaly and hypotonia. The dataset likely contains details on two novel compound heterozygous variants (c.1031-6_1041del and c.1049A>G) identified via whole-exome sequencing and validated by in vitro splicing assays. It was authored by Weihong Zhang and last updated on 2026-05-27.

Use Cases

• Validate in silico splicing predictions based on the described missense variant c.1049A>G.
• Correlate specific ASNS gene variants with clinical phenotypes like microcephaly and hypotonia.
• Expand the known mutational spectrum of ASNSD based on the novel compound heterozygous variants.
• Study the functional impact of exon-skipping events based on the partial deletion of Exon 9 confirmed by assay.

Strengths

• Includes functional validation data from in vitro splicing assays.
• Documents two novel compound heterozygous variants in the ASNS gene.
• Released under a permissive CC-BY-4.0 license.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• Data is very small (9.7 KB), indicating a limited scope focused on a single case.

Provenance

Source

figshare

Collection Method

Whole-exome sequencing and in vitro splicing assays from a clinical case study.

Freshness

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

Geography

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