Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia
Biallelic loss-of-function variants in <i>SLC13A1</i> are a novel cause of skeletal phenotypes in humans with a measurable biomarker. Sulfate measurements should be considered in the clinical interpretation of variants identified in <i>SLC13A1</i>.
Authors
- Christina G. Tise (ORCID: https://orcid.org/0000-0002-6227-7895)
- K.T. Lee
- Lachlan De Hayr (ORCID: https://orcid.org/0000-0001-7852-2800)
- Katie A. Ashton
- Tony Roscioli (ORCID: https://orcid.org/0000-0003-1502-5000)
- Victoria L. Harvey (ORCID: https://orcid.org/0000-0001-5956-6664)
- Anas M. Khanshour
- Futao Zhang (ORCID: https://orcid.org/0000-0002-6043-1756)
- Andreas Zankl (ORCID: https://orcid.org/0000-0001-8612-1062)
- Erin M. Carter (ORCID: https://orcid.org/0009-0007-8754-6354)
- Carol A. Wise (ORCID: https://orcid.org/0000-0002-6790-2194)
- Jonathan J. Rios (ORCID: https://orcid.org/0000-0002-0969-2184)
- Omkar L. Patkar (ORCID: https://orcid.org/0000-0003-1543-2060)
- Cathleen Raggio
- Emma Krzesinski
- Kristhen N Atala
- Ying Zhu (ORCID: https://orcid.org/0000-0001-8874-6904)
- Paul A. Dawson (ORCID: https://orcid.org/0000-0001-9760-4422)
- Michael F. Buckley
- Jennifer A. Bassetti
Institutions
- Hospital for Special Surgery (US)
- The University of Sydney (AU)
- Lucile Packard Children's Hospital (US)
- Garvan Institute of Medical Research (AU)
- The University of Queensland (AU)
- University of the Sunshine Coast (AU)
- Cornell University (US)
- Monash Medical Centre (AU)
- Children's Hospital at Westmead (AU)
- Texas Scottish Rite Hospital for Children (US)
- UNSW Sydney (AU)
- Mater Research (AU)
- Southwestern Medical Center (US)
- Prince of Wales Hospital (AU)
- Weill Cornell Medicine (US)
- Monash University (AU)
- Neuroscience Research Australia (AU)
- The University of Texas Southwestern Medical Center (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2024-12-26
- DOI
- https://doi.org/10.1016/j.gimo.2024.101958
- Citations
- 2
- Primary Topic
- Ion Transport and Channel Regulation
- Type
- article
- Field-Weighted Citation Impact
- 0.47
Funders
- Mater Foundation
- Australian Government
- National Institutes of Health
- Medical Research Council
- National Health and Medical Research Council
- Common Fund