From genotype-level dysfunction to variant-level causality in SLC10A2-associated bile acid malabsorption

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ID: 337902
2026
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Ranked #100 of 100 articles by views in inflammatory bowel diseases

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Abstract
To the Editors, Johnson et al. provide compelling evidence that primary bile acid malabsorption can masquerade as pediatric inflammatory bowel disease. In the index child, 2 SLC10A2 missense variants were shown in trans, apical sodium-dependent bile acid transporter (ASBT) localization was reduced, patient-derived ileoids had impaired taurocholate uptake, and symptoms improved with cholestyramine.1 This combination strongly supports disease at the genotype level. One distinction, however, matters if these findings are used for future variant classification. The functional experiments were performed in tissue and ileoids from a child carrying p. Pro65Leu and p. Pro142Leu simultaneously. These expertments therefore tested the compound-heterozygous genotype, not either allele in isolation. Reduced transport in that system cannot establish whether both substitutions independently impair ASBT, whether one allele accounts for most of the defect, or whether the combined genotype produces an interaction not reproduced by either variant alone. ClinGen guidance for PS3/BS3 (Pathogenic Strong 3/Benign Strong 3) emphasizes that functional evidence should be applied according to assay validity and to the specific variant actually interrogated.2,3
Reference Key
openalex_W7224760470 Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Ercan Yılmaz, Zeynep Yamancan Yılmaz
Journal inflammatory bowel diseases
Year 2026
DOI
10.1093/ibd/izag231
URL
https://doi.org/10.1093/ibd/izag231
Keywords Keywords not found

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