Lowe Syndrome Clinical Trial
Official title:
Mutation Detection for Lowe Syndrome
This study will investigate the genetic basis of oculocerebrorenal syndrome of Lowe (OCRL)-a
rare X-linked disorder (carried by females and passed to males). Patients with OCRL have
abnormal development of the eye lens, developmental delay, muscle weakness and kidney
dysfunction.
The study will examine DNA and cell samples obtained and archived from patients with OCRL
enrolled in a previous protocol (HG008A) between 1996 and 1999. It will identify mutations in
the OCRL1 gene responsible for OCRL in affected males and try to correlate them with specific
biochemical or cellular activities (e.g., enzyme activity, protein stability, cellular
localization and trafficking). When test results are available, the information will be
communicated to the patients, their parents (if the patient is a minor) and their physicians,
and families will receive genetic counseling.
Oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked disorder characterized by
congenital cataracts, mental retardation, and renal tubular dysfunction. Patients with known
or suspected OCRL were enrolled under previous protocol 96-HG-0008 that expired in 1998 and
was not renewed. We are continuing studies of DNA and cell samples obtained and archived
under our previous protocol to identify mutations in the OCRL1 gene responsible for Lowe
syndrome and related disorders in affected males and attempt to correlate these mutations to
particular biochemical or cellular phenotypes (enzyme activity, protein stability, cellular
localization and trafficking). Information about genotypes will not be communicated back to
the patients, their parents (if patient is a minor) or their physicians as part of this
study.
We are also continuing our investigations of heterogeneity in OCRL by studying collected cell
cultures from our collaborator Dr. Steven Scheinman at Suny New York Medical University,
Syracuse, from a group of patients with mutations in OCRL1 who have Dent disease,
characterized by renal tubular dysfunction. These data, and the variability in the renal and
CNS abnormalities that occur in OCRL are evidence for the existence of modifiers. We propose
to identify genes that are differentially expressed in cells from OCRL patients, patients
with Dent disease and OCRL1 mutations by gene expression analysis of RNA from patient
samples.
As part of our study on phenotypic and genetic heterogeneity in OCRL, mutation analysis
resulted in the identification of mutations mostly in the second two-thirds of OCRL1.
However, the OCRL1 mutations in the Dent disease patients have been found in the first third
of OCRL1. We plan to send samples from Lowe syndrome patients without identified OCRL1
mutations to a Dr. Steven Scheinman who will look for such OCRL1 mutations. He will be sent
only coded samples and will look for such OCRL1 mutations. He will be sent only coded samples
and will not have access to patient identifiers. This information will be used for research
purposes only.
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