Heterozygous pathogenic PPARG variants in patients with severe hypertriglyceridemia
Bibliographic record
Abstract
BACKGROUND: Heterozygous pathogenic variants in PPARG cause familial partial lipodystrophy type 3 (FPLD3; Mendelian Inheritance in Man [MIM] #604367), a heritable form of insulin resistance with multiple metabolic disturbances including hypertriglyceridemia. We investigated the prevalence of FPLD3 individuals in our cohort of patients with multifactorial chylomicronemia syndrome (MCS). METHODS: We used our targeted DNA sequencing panel to screen the PPARG gene in 182 clinically diagnosed MCS patients. RESULTS: We found that 3.3% of MCS patients (6/182) had a heterozygous pathogenic PPARG variant, consistent with a diagnosis of FPLD3. The variants were PPARG p.Lys186fs (ClinVar identifier 8132), p.Glu217Lys, p.Pro454fs (ClinVar identifier 436405), p.Met284Ile, p.Ser383Arg, and p.Arg181Trp. None of these patients had previously been diagnosed with FPLD3 and their clinical and biochemical features were otherwise comparable to those of the entire MCS cohort. CONCLUSION: A small but clinically relevant subgroup of individuals with MCS has FPLD3. Clinical features in FPLD3 are subtle but the phenotype can be metabolically severe. Genetic screening of patients with severe hypertriglyceridemia should include assessment of lipodystrophy genes, since management of lipodystrophy patients is distinct from that of typical MCS patients.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.003 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".