RT Journal
A1 Francis, Fiona
A1 Strom, Tim M.
A1 Hennig, Steffen
A1 Böddrich, Annett
A1 Lorenz, Bettina
A1 Brandau, Oliver
A1 Mohnike, Klaus L.
A1 Cagnoli, Michele
A1 Steffens, Christina
A1 Klages, Sven
A1 Borzym, Katja
A1 Pohl, Thomas
A1 Oudet, Claudine
A1 Econs, Michael J.
A1 Rowe, Peter S.N.
A1 Reinhardt, Richard
A1 Meitinger, Thomas
A1 Lehrach, Hans
T1 Genomic Organization of the Human PEX Gene Mutated in X-Linked Dominant Hypophosphatemic Rickets
JF Genome Research 
JO Genome Research 
YR 1997 
FD June 01 
VO 7 
IS 6 
SP 573 
OP 585 
DO 10.1101/gr.7.6.573 
UL http://genome.cshlp.org/content/7/6/573.abstract 
AB X-linked dominant hypophosphatemic rickets (HYP) is the most common form of hereditary rickets. Recently we have cloned thePEX 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.]