Gastrointestinal involvement in Ehlers–Danlos syndrome classical-like type 2 associated with a novel AEBP1 splice-site variant
Hikaru Nakahara, Tomomi Yamaguchi, Hiroaki Niitsu, Akiko Abe, Ryohei Hayashi, Shiro Oka, Koji Arihiro, Tomoki Kosho, Takao Hinoi · 2026
Read Gastrointestinal involvement in Ehlers–Danlos syndrome classical-like type 2 associated with a novel AEBP1 splice-site variant by Hikaru Nakahara, Tomomi Yamaguchi, Hiroaki Niitsu, Akiko Abe, Ryohei Hayashi, Shiro Oka, Koji Arihiro, Tomoki Kosho, Takao Hinoi (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13503278.txt.
Description
Hikaru Nakahara and others report gut involvement in a rare connective tissue disorder, classical-like Ehlers-Danlos syndrome type 2. In 2026, the case is the sixteenth found patient with AEBP1-related disease, carrying a homozygous splice-site variant that skips exon 12 and causes loss of function. Bowel rupture in this disorder is rarely described and poorly understood.
The patient suffered sigmoid perforation shortly after rectal cancer surgery, then spontaneous small bowel perforation nearly twenty years later. Colonic tissue showed only mildly widened intermuscular spaces, and repeated endoscopies during cancer surveillance caused no perforation. The authors suggest gut manifestations here may differ from vessel Ehlers-Danlos syndrome and warrant further case accumulation.
Catalog record
| CREATOR | Hikaru Nakahara, Tomomi Yamaguchi, Hiroaki Niitsu, Akiko Abe, Ryohei Hayashi, Shiro Oka, Koji Arihiro, Tomoki Kosho, Takao Hinoi |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 22 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |