Article
Homozygous Loss-of-Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities.
Clinical genetics - 1 Jul 2026
Koumakis Eugénie, Huber Céline, Chung Wendy, Leroy Christine, Parisot Pauline, Gaudin Regis, Zaidan Mohamad, Cormier-Daire Valérie, Friedlander Gérard, Hirsch Yoel
Abstract excerpt
SLC20A1 encodes the ubiquitously expressed phosphate transporter PiT1, a protein with roles extending beyond phosphate homeostasis to include regulation of proliferation, differentiation, apoptosis, and embryonic development. While heterozygous SLC20A1 variants have been associated with urinary tract malformations, the impact of biallelic loss-of-function was unknown. We report the first human case of a biallelic...
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