PTH and nephrolithiasis: He had no manifestations of rickets, normal growth and bone mineral density, and came to medical attention because of recurrent kidney stones, accompanied by hypercalcuria, hypophosphatemia, suppressed PTH, and high 1,25(OH)2D. He had a novel splicing mutation c.757-1G>A affecting the conserved splice donor site of intron 7, predicted to cause aberrant splicing, and a previously reported intronic deletion mutation, c.925+20_926-48del (15).