A 2026 case series from figshare by Elie G. Malki integrates clinical and molecular data for three Palestinian infants with DGAT1 deficiency. The dataset includes a novel missense variant analyzed with structural protein modeling and compares findings to 39 previously reported cases. All patients presented with congenital diarrhea, hypoalbuminemia, and growth faltering.
Use Cases
- Refine genotype-phenotype correlations for DGAT1 deficiency based on integrated clinical and molecular data.
- Benchmark novel missense variants against known cases based on the structured literature comparison.
- Investigate the impact of specific mutations on protein function based on structural modeling insights.
- Study treatment outcomes for DGAT1 deficiency based on the reported response to low-fat, amino acid–based nutrition.
Strengths
- Includes a novel missense variant (c.820C>T; p.Arg274Trp) with detailed structural and conservation analysis.
- Integrates data from three new cases with a review of 39 previously reported cases.
- Provides specific clinical presentation details: congenital diarrhea, hypoalbuminemia, and severe growth faltering.
Limitations
- Column-level documentation is absent; field semantics must be inferred after download.
- Row count is unknown, which may limit suitability assessment.
- The dataset is very small (10.6 KB), indicating limited scope.
Provenance
- Source
- figshare, author Elie G. Malki.
- Collection Method
- Case analysis and structured literature review; diagnosis via whole-exome and Sanger sequencing.
- Freshness
- Last updated 2026-05-12 05:42:29; freshness should be verified.
- Geography
- Patients are Palestinian infants.