Evidence map›Paper›PMID 42277864›Full record

ArticleBMC medical genomics2026

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

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC medical genomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Yan Yu *Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, 410000, China.
Yimo Zeng *Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, 410000, China.
Yingdi Liu *Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, 410000, China.
Yaning LiuDepartment of Medical Genetics, Hunan Jiahui Genetics Hospital, Changsha, 410000, China.
Qingxin ShiCenter for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, 410000, China.
Huimin ZhuCenter for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, 410000, China.
Juan WenCenter for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, 410000, China.
Desheng LiangCenter for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, 410000, China.
Zhuo LiCenter for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, 410000, China. lizhuo@sklmg.edu.cn.
Lingqian WuCenter for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, 410000, China. wulingqian@sklmg.edu.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundKyphoscoliotic Ehlers-Danlos syndrome (kEDS, OMIM: #225400) is a rare subtype of Ehlers-Danlos syndrome characterized by joint hypermobility and spinal deformity, with occasional vascular complications. The rarity of vascular phenotypes in kEDS often leads to low clinical suspicion, contributing to delayed diagnosis and poor outcomes. CASE PRESENTATION: We report a 13-year-old boy who presented with joint laxity, scoliosis, blue sclerae, and pectus excavatum, and who ultimately succumbed to aortic rupture. Initial whole-exome sequencing (WES) and copy number variation (CNV) analysis failed to identify a causative variant, and genes associated with Marfan syndrome were excluded by WES and multiplex ligation-dependent probe amplification (MLPA). Upon re-analysis of the WES data, however, a homozygous deletion spanning exons 15-16 of PLOD1 was detected and subsequently confirmed by quantitative PCR.

conclusionsThis case demonstrates that small exon deletions in PLOD1 may not be reliably detected by routine WES/CNV pipelines, leading to diagnostic delay, and underscores the underrecognized vascular risk in kEDS. Clinicians should maintain vigilance for vascular complications in patients with kEDS and consider re-analysis strategies to ensure timely diagnosis and appropriate genetic counseling.

Indexed as

Ehlers-Danlos SyndromeHomozygoteKyphosisProcollagen-Lysine, 2-Oxoglutarate 5-DioxygenaseScoliosisAdolescentExome SequencingHumansMaleMolecular Diagnostic TechniquesPLOD1 protein, humanProcollagen-Lysine, 2-Oxoglutarate 5-DioxygenaseAortic ruptureKyphoscoliotic Ehlers-Danlos syndromeNovel homozygous PLOD1 variantWhole-exome sequencing reanalysis

Identifiers

PMID42277864
PMCPMC13491623

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