P177: Evaluation of the genotypic and phenotypic spectrum of pediatric ABCC6 deficiency
ABCC6 is a transmembrane protein involved in the metabolic pyrophosphate (PPi)-adenosine pathway that produces PPi, an inhibitor of skeletal mineralization, and adenosine, a regulator of vascular intimal proliferation. Dysfunctional ABCC6 results in accumulation of mineralized deposits in the soft tissue and arterial intimal proliferation. Pseudoxanthoma elasticum (PXE) due to ABCC6 Deficiency is characterized by calcification of the skin, retina, and peripheral arteries, with symptom onset typically in adolescence or early adulthood.
Authors
- David M. Goldberg (ORCID: https://orcid.org/0000-0003-2617-5143)
- Amina Kurtović-Kozarić (ORCID: https://orcid.org/0000-0002-6063-7260)
- Shira G. Ziegler (ORCID: https://orcid.org/0000-0002-3007-9755)
- Yingxiu Liao
- Carlos Ferreira
- M. Zulf Mughal
- Jane Beckwell
- Marta Bertamino (ORCID: https://orcid.org/0000-0002-8096-7806)
- Lisa Pabst (ORCID: https://orcid.org/0000-0003-0592-8054)
- Lisa R. Sun (ORCID: https://orcid.org/0000-0003-4948-0415)
- Mark J. Kiel (ORCID: https://orcid.org/0000-0003-0931-1983)
- Katie Swanner
- Ruth du Moulin
Institutions
- Children's Hospital of Philadelphia (US)
- Johns Hopkins University (US)
- Johns Hopkins Medicine (US)
- Istituto Giannina Gaslini (IT)
- Children's Specialty Group (US)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (US)
- University of Utah Health Care (US)
- Center for Genomic Science (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Smith-Kettlewell Eye Research Institute (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102142
- Primary Topic
- Pharmaceutical studies and practices
- Type
- article
- Field-Weighted Citation Impact
- 0.00