Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia

• Published in: Genetics in Medicine Open Vol. 3; p. 101958
• Main Authors: Tise, Christina G., Ashton, Katie, de Hayr, Lachlan, Lee, Kun-Di, Patkar, Omkar L., Krzesinski, Emma, Bassetti, Jennifer A., Carter, Erin M., Raggio, Cathleen, Zankl, Andreas, Khanshour, Anas M., Atala, Kristhen N., Rios, Jonathan J., Wise, Carol A., Zhu, Ying, Zhang, Futao, Roscioli, Tony, Buckley, Michael, Harvey, Robert J., Dawson, Paul A.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 2025; Elsevier
• Subjects: Hyposulfatemia; Scoliosis; Short stature; Skeletal dysplasia; Sulfate transporter; Sulfate transporter; Short stature; Skeletal dysplasia; Scoliosis; Hyposulfatemia

Sulfate is vital for many physiological processes, including the structural and functional maintenance of macromolecules and formation of sulfur-containing compounds essential for cartilage and bone development. SLC13A1 is a sodium-sulfate cotransporter primarily expressed in the kidney, where it me...