Inorganic pyrophosphate plasma levels in patients with GGCX-associated PXE-like phenotypes
This study demonstrates that in addition to <i>ABCC6</i>, <i>GGCX</i> variants can cause the PXE phenotype, expanding PXE and perhaps other heritable ectopic calcification disorders' clinical and genetic heterogeneity. The results also show that the plasma concentrations of PPi in these patients are not reduced compared to healthy control individuals, suggesting that plasma PPi does not govern ectopic calcification in GGCX deficiency.
Authors
- Sharon F. Terry (ORCID: https://orcid.org/0000-0002-0452-9329)
- Tamara Wurst (ORCID: https://orcid.org/0000-0002-7560-5835)
- Qiaoli Li (ORCID: https://orcid.org/0000-0002-8495-7103)
- Mary Peckiconis
- Catherine Troutman
Institutions
- Thomas Jefferson University (US)
- Wadi International University (SY)
- Jefferson Institute (US)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2024-09-27
- DOI
- https://doi.org/10.3389/fgene.2024.1429320
- Citations
- 3
- Primary Topic
- Dermatological and Skeletal Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.65
Funders
- National Institutes of Health
- National Institute of Arthritis and Musculoskeletal and Skin Diseases