Novel SLC34A3 mutation causing hereditary hypophosphataemic rickets with hypercalciuria in a Gambian family

► A Gambian family of 5 children where 3 siblings had florid rickets with suspected HHRH ► Biochemical profile of hypophosphataemia with elevated urinary phosphate and calcium excretion. ► Genetic analysis of the SLC34A3 gene indicated a novel mutation of S168F. ► The siblings with rickets were homozygous in S168F, the unaffected siblings were carriers. ► We report the first cases of hereditary hypophosphataemic rickets with hypercalciuria in Africa.