Intronic Deletions in the<i>SLC34A3</i>Gene Cause Hereditary Hypophosphatemic Rickets with Hypercalciuria

Abstract

HHRH is caused by biallelic mutations in the SLC34A3 gene. Haplotype analysis suggests that the two intron 9 deletions arose independently. The identification of three independent deletions in introns 9 and 10 suggests that the SLC34A3 gene may be susceptible to unequal crossing over because of sequence misalignment during meiosis.