Novel SLC10A2 variants induce primary bile acid malabsorption and dysbiosis with IBD-like features
Authors:
- Casey R JohnsonCasey R Johnson
- Lily GilletteLGLily Gillette
- Qurbonali QurbonovQQQurbonali Qurbonov
- Abigail PloneAPAbigail Plone
- Stefanie S SchmiederStefanie S Schmieder
- Michael AndersonMAMichael Anderson
- Yanjia Jason ZhangYZYanjia Jason Zhang
- Krishnan RaghunathanKrishnan Raghunathan
- Michael FieldMFMichael Field
- Alka GoyalAlka Goyal
- Stacy A KahnStacy A Kahn
Open Access
- 11 July 2026
- journal article
- Published by Oxford University Press (OUP) in Inflammatory Bowel Diseases
- Vol. 32 (9) , 1849-1853
Abstract
Lay summary: We describe biochemically and functionally validated primary bile acid malabsorption caused by novel biallelic SLC10A2 variants in a child initially diagnosed with Crohn’s disease. Pediatric IBD cohort reanalysis identified PBAM-compatible genotypes, supporting selective testing when clinical features are suggestive.Keywords
Funding Information
- Pediatric Scientist Development Program
- Eunice Kennedy Shriver National Institute of Child Health and Human Development
- National Institutes of Health (K12-HD000850)
- American Gastroenterological Association Research Scholar
- National Institutes of Health (RC2DK122532)
- National Institutes of Health (P30DK034854)
- National Institutes of Health (RC2DK118640)
- Leona M. and Harry B. Helmsley Charitable Trust (P30DK034854)
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