Kyphoscoliotic Ehlers-Danlos syndrome due to a novel homozygous PLOD1 variant: severe vascular involvement and molecular diagnosis
Yan Yu, Yimo Zeng, Yingdi Liu, Yaning Liu, Qingxin Shi, Huimin Zhu, Juan Wen, Desheng Liang, Zhuo Li, Lingqian Wu · 2026
Read Kyphoscoliotic Ehlers-Danlos syndrome due to a novel homozygous PLOD1 variant: severe vascular involvement and molecular diagnosis by Yan Yu, Yimo Zeng, Yingdi Liu, Yaning Liu, Qingxin Shi, Huimin Zhu, Juan Wen, Desheng Liang, Zhuo Li, Lingqian Wu (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/PMC13491623.txt.
Description
Yan Yu and nine colleagues recount in 2026 the case of a thirteen-year-old boy with a rare inherited connective tissue disorder, kyphoscoliotic Ehlers-Danlos syndrome. The condition brings loose joints and spinal curvature, and its blood vessel risks are easy to overlook. The boy also had blue-tinted eye whites and a sunken chest, and he died when his aorta ruptured.
Standard gene sequencing and copy-number screening first found nothing, and Marfan syndrome genes were ruled out as well. Re-examining the sequencing data revealed a missing stretch covering exons fifteen and sixteen of the PLOD1 gene on both copies, later confirmed by a targeted test. The authors warn that routine pipelines can miss such small deletions, delaying diagnosis and counseling, and urge vigilance for vessel problems in this syndrome.
Catalog record
| CREATOR | Yan Yu, Yimo Zeng, Yingdi Liu, Yaning Liu, Qingxin Shi, Huimin Zhu, Juan Wen, Desheng Liang, Zhuo Li, Lingqian Wu |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 26783 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |