Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria.

ABSTRACT: Hypophosphatemia and metabolic bone disease are associated with hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to biallelic mutations of SLC34A3 encoding the NPT2C sodium-phosphate cotransporter and nephrolithiasis/osteoporosis, hypophosphatemic 1 (NPHLOP1) due to monoallelic mutations in SLC34A1 encoding the NPT2A sodium-phosphate cotransporter. To identify a genetic cause of apparent dominant transmission of HHRH. Retrospective and prospective analysis of clinical and molecular characteristics of patients studied in 2 academic medical centers. We recruited 4 affected and 3 unaffected members of a 4-generation family in which the proband presented with apparent HHRH. We performed clinical examinations, biochemical and radiological analyses, and molecular studies of gen

SUBMITTER: Gordon RJ 

PROVIDER: S-EPMC7448300 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature