Biallelic variants of the first Kunitz domain of SPINT2 cause none syndromic form of congenital diarrhea and tufting enteropathy
Bibliographic record
Abstract
Abstract Biallelic SPINT2 pathogenic variants cause a syndromic form of congenital diarrhea and enteropathy (OMIM 270420). To date, all 34 patients reported presented with additional extra-intestinal syndromic features. We report on a 5-year-old girl who presented early in life with congenital diarrhea and was found to have a novel homozygous variant in SPINT2. She presented with congenital diarrhea, pathological studies confirmed tufting enteropathy, and at the age of 5 years, she did not develop any extra-intestinal syndromic features. The variant (NM_021102.4: c.203A > G (p. [Tyr68Cys]) detected in homozygosity status is the first missense mutation reported in the 1st Kunitz domain (KD1) of SPINT2 in humans. Previously in-vitro functional studies of this variant confirmed the deleterious effect leading to complete loss of inhibitory activity of the intestinal serine proteases. Furthermore, this is the first description of SPINT2-related diarrhea in a patient who lived without the need for long-term total parenteral nutrition. This study expands the clinical and molecular characteristics of SPINT-related conditions.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 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 | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
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 source (direct Gemma or distilled Codex), 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".