Novel SLC10A2 variants induce primary bile acid malabsorption and dysbiosis with IBD-like features.

Biallelic SLC10A2 variants (the ileal bile acid transporter) causing primary bile acid malabsorption and dysbiosis.

Description of biochemically and functionally validated primary bile acid malabsorption, caused by novel biallelic SLC10A2 variants, in a child initially diagnosed with Crohn's disease. Reanalysis of a paediatric IBD cohort identified genotypes compatible with primary bile acid malabsorption, supporting selective testing when clinical features are suggestive.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

The clinical value is direct: a genetic diagnosis of bile acid malabsorption (treatable with a sequestrant) where IBD was wrongly assumed changes management and counselling. The practical message — test SLC10A2 in a suggestive pseudo-Crohn presentation — is actionable. The very brief abstract limits assessment of sample size and robustness; to be read in full.

Analysis by Dr Thibaut Benquey