DGAT1 Deficiency Case Reports: Three Palestinian Infants Including a Novel Variant

Elie G. Malki's study on figshare integrates molecular interpretation with clinical data for DGAT1 deficiency, a rare cause of congenital diarrhea. The dataset includes analysis of three Palestinian infants and a structured literature review of 39 reported cases, identifying a novel missense variant. The work was last updated on 2026-05-12.

Use Cases

• Interpret genotype-phenotype correlations based on integrated clinical and molecular data
• Benchmark novel genetic variants against reported cases based on the structured literature review
• Model structural impacts of missense mutations based on three-dimensional protein modeling

Strengths

• Includes analysis of a novel homozygous missense variant (c.820C>T; p.Arg274Trp) not previously reported
• Compares findings against a structured review of 39 reported cases of DGAT1 deficiency
• Integrates multiple analysis methods: segregation testing, conservation assessment, and 3D protein modeling

Limitations

• Dataset scale is small at 5.3 MB, likely containing detailed case reports rather than large-scale data
• Row count and column-level documentation are absent; data structure must be inferred after download
• Data may reflect geographic bias inherent to the case selection of three Palestinian infants

Provenance

Source

Elie G. Malki

Collection Method

Diagnosis established by whole-exome sequencing with confirmatory Sanger sequencing; literature search conducted.

Freshness

Last updated 2026-05-12 05:42:27

Geography

Patients are Palestinian infants; literature review is global.