The oculocerebrorenal syndrome of Lowe (OCRL; McKusick 309000) is a ra
re X-linked disorder characterized by mental retardation, congenital c
ataracts, and Fanconi syndrome of the proximal renal tubules. We have
carried out physical mapping of the OCRL1 gene and determined that it
contains 24 exons occupying 58 kb. The gene, located in Xq25-26, is tr
anscribed in a centromeric to telomeric direction. Primers have been d
eveloped that allow all coding exons and their intron/exon boundaries
to be amplified from genomic DNA for mutation detection. Two tetranucl
eotide tandem repeat polymorphisms were characterized that immediately
flank the OCRL1 gene and, together, are informative in over 90% of fe
males. Variable splicing was seen in the OCRL1 transcript, involving a
small 24-bp exon. These results should prove useful to medical and mo
lecular geneticists studying mutations and providing DNA diagnostic se
rvices to families dealing with Lowe syndrome as well as to cell biolo
gists interested in structure-function relationships for the OCRL1 pro
tein.