Zewu Zhu, Bryan Bo-Ran Ho, Alyssa Chen, James Amrhein, Andreea Apetrei, Thomas Oliver Carpenter, Marise Lazaretti-Castro, Juan Manuel Colazo, Kathryn McCrystal Dahir, Michaela Geßner, Evgenia Gurevich, Cathrine Alsaker Heier, Jill Hickman Simmons, Tracy Earl Hunley, Bernd Hoppe, Christina Jacobsen, Anne Kouri, Nina Ma, Sachin Majumdar, Arnaud Molin, Natalie Nokoff, Susan M Ott, Helena Gil Peña, Fernando Santos, Peter Tebben, Lisa Swartz Topor, Yanhong Deng, Clemens Bergwitz
Pathogenic variants in solute carrier family 34, member 3 (SLC34A3), the gene encoding the sodium-dependent phosphate cotransporter 2c (NPT2c), cause hereditary hypophosphatemic rickets with hypercalciuria (HHRH). Here, we report a pooled analysis of clinical and laboratory records of 304 individuals from 145 kindreds, including 20 previously unreported HHRH kindreds, in which two novel SLC34A3 pathogenic variants were identified. Compound heterozygous/homozygous carriers show above 90% penetrance for kidney and bone phenotypes...
February 15, 2024: Kidney International