TY  - JOUR
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
Y1  - 1997/06/01 
JF  - Genome Research 
JO  - Genome Research 
SP  - 573 
EP  - 585 
DO  - 10.1101/gr.7.6.573 
VL  - 7 
IS  - 6 
UR  - http://genome.cshlp.org/content/7/6/573.abstract 
N2  - 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.] 
ER  -