E3 PreliminaryPreliminaryPEM not requiredPeer-reviewedMachine draft
Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene.
Castori, Marco, Ritelli, Marco, Zoppi, Nicoletta et al. · American journal of medical genetics. Part A · 2012 · DOI
Quick Summary
This case describes a 51-year-old woman diagnosed with arterial tortuosity syndrome (ATS), a rare genetic condition affecting blood vessel structure and strength. She presented with chronic pain, fatigue, joint problems, and heart valve issues. Genetic testing found a new mutation in the SLC2A10 gene responsible for this condition, which is usually diagnosed in children but was discovered here in an adult.
Why It Matters
This study is relevant to ME/CFS research because it demonstrates that genetic connective tissue disorders can present with chronic fatigue and widespread pain in adults, sometimes masquerading as primary fatigue syndromes. Understanding rare genetic causes of fatigue and connective tissue abnormalities may help identify subgroups within ME/CFS populations and improve differential diagnosis.
Observed Findings
- 51-year-old woman presenting with chronic widespread pain, chronic fatigue, and positive family history of aortic malformation
- Vascular imaging showed aortic tortuosity, anomalous origin of aortic arch branches, and splenic artery aneurysm
- Genetic testing revealed homozygous c.1411+1G>A splice mutation in SLC2A10 causing 41-amino acid GLUT10 deletion
- Immurofluorescence studies showed impaired membrane localization of GLUT10 in patient fibroblasts
- Clinical features included joint hypermobility, cardiac valve prolapses, easy bruising, and congenital connective tissue abnormalities
Inferred Conclusions
- This is the first reported splice-site mutation in SLC2A10, expanding the known genetic architecture of arterial tortuosity syndrome
- Arterial tortuosity syndrome can present in adults with chronic pain and fatigue, suggesting the condition is underdiagnosed in adult populations
- GLUT10 dysfunction impairs protein trafficking and membrane localization, contributing to connective tissue abnormalities in this disorder
- Adult-onset ATS should be considered in the differential diagnosis of unexplained chronic pain and connective tissue findings
Remaining Questions
- How frequently do SLC2A10 mutations occur in adult populations with unexplained chronic pain and fatigue syndromes?
What This Study Does Not Prove
This case report does not establish that SLC2A10 mutations are common in ME/CFS populations or that ATS is a typical cause of ME/CFS. It is a single case and does not determine causation between GLUT10 dysfunction and fatigue mechanisms. The study does not address whether other ME/CFS patients carry similar mutations.
Tags
Symptom:PainFatigue
Biomarker:Gene Expression
Method Flag:No ControlsSmall SampleExploratory Only
Metadata
- DOI
- 10.1002/ajmg.a.35266
- PMID
- 22488877
- Review status
- Machine draft
- Evidence level
- Early hypothesis, preprint, editorial, or weak support
- Last updated
- 8 April 2026
About the PEM badge: “PEM required” means post-exertional malaise was an explicit required diagnostic criterion for participant inclusion in this study — not that PEM was studied, observed, or discussed. Studies using criteria that do not require PEM (e.g. Fukuda, Oxford) are tagged “PEM not required”. How the atlas works →
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