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

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

Purpose: 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, wh...

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Bibliographic Details
Main Authors: Christina G. Tise, Katie Ashton, Lachlan de Hayr, Kun-Di Lee, Omkar L. Patkar, Emma Krzesinski, Jennifer A. Bassetti, Erin M. Carter, Cathleen Raggio, Andreas Zankl, Anas M. Khanshour, Kristhen N. Atala, Jonathan J. Rios, Carol A. Wise, Ying Zhu, Futao Zhang, Tony Roscioli, Michael Buckley, Robert J. Harvey, Paul A. Dawson
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Genetics in Medicine Open
Subjects:
Hyposulfatemia
Scoliosis
Short stature
Skeletal dysplasia
Sulfate transporter
Online Access:http://www.sciencedirect.com/science/article/pii/S294977442401104X
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