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Article

Exome sequencing identifies a novel FOXP3 mutation in a 2-generation family with inflammatory bowel disease.

Journal of pediatric gastroenterology and nutrition - 1 May 2014

Okou David T, Mondal Kajari, Faubion William A, Kobrynski Lisa J, Denson Lee A, Mulle Jennifer G, Ramachandran Dhanya, Xiong Yuning, Svingen Phyllis, Patel Viren, Bose Promita, Waters Jon P, Prahalad Sampath, Cutler David J, Zwick Michael E, Kugathasan Subra

Abstract excerpt

OBJECTIVES: Inflammatory bowel disease (IBD) is heritable, but a total of 163 variants commonly implicated in IBD pathogenesis account for only 25% of the heritability. Rare, highly penetrant genetic variants may also explain mendelian forms of IBD and some of the missing heritability. To test the hypothesis that rare loss-of-function mutations can be causative, we performed whole exome sequencing (WES) on 5...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24792626
DOI: 10.1097/MPG.0000000000000302
PMCID: PMC4277865

Genes

FOXP3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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