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Article

Gastrointestinal involvement in Ehlers-Danlos syndrome classical-like type 2 associated with a novel AEBP1 splice-site variant.

Journal of human genetics - 1 Sept 2026

Nakahara Hikaru, Yamaguchi Tomomi, Niitsu Hiroaki, Abe Akiko, Hayashi Ryohei, Oka Shiro, Arihiro Koji, Kosho Tomoki, Hinoi Takao

Abstract excerpt

Ehlers-Danlos syndrome classical-like type 2 (clEDS2) is a rare autosomal recessive connective tissue disorder caused by biallelic loss-of-function variants in the gene encoding adipocyte enhancer-binding protein 1 (AEBP1). While cutaneous and skeletal manifestations are commonly observed, gastrointestinal complications, including bowel rupture, have been reported only rarely, and their histopathological basis...

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Identifiers

PMID: 42191857
DOI: 10.1038/s10038-026-01480-z
PMCID: PMC13503278

Genes

AEBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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