SLC34A3 GENE ANALYSIS IN HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCURIA
Hypophosphatemic rickets with hypercalciuria (HHRH) is characterised by hypophosphatemic rickets, growth retardation, osteomalacia, hypotonia and muscle weakness. Onset is within infancy or early childhood. Biochemically affected individuals have hypophosphatemia (low serum phosphate) due to decreased renal tubular reabsorption, hypercalciuria (high urine calcium), increased serum calcitriol (1,25-dihydroxyvitamin D) levels and decreased or low-normal serum parathyroid hormone (PTH).
HHRH is inherited in an autosomal recessive manner and is caused by disease-causing variants in the SLC34A3 gene (Bergwitz et al 2006 Am J Hum Genet 78, 179-192).
The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.