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X-linked dominant hypophosphatemic rickets (HYP) is the most common form of hereditary rickets. Recently we have cloned the PEX  gene and shown it to be mutated and deleted in HYP individuals. We have now completely sequenced a 243-kb genomic region containing  PEX  and have identified all intron–exon boundary sequences. We show that  PEX,  homologous to members of a neutral endopeptidase family, has an exon organization that is very similar to neprilysin. We have performed an extensive mutation analysis examining all 22  PEX  coding exons in 29 familial and 14 sporadic cases of hypophosphatemia. Sequence changes include missense, frameshift, nonsense, and splice site mutations and intragenic deletions. A mutation was found in 25 (86%) of the 29 familial cases and 8 (57%) of the 14 sporadic cases. Our data provide the first evidence that most of the familial and also a large number of the sporadic cases of hypophosphatemia are caused by loss-of-function mutations in  PEX .  [The sequence data described in this paper have been submitted to GenBank under accession nos. Y08111 – Y08132  and  Y10196 .]

Genomic Organization of the Human PEX Gene Mutated in X-Linked Dominant Hypophosphatemic Rickets