Protocol Number: 01-HG-0095

Title:

Mutation Detection for Lowe Syndrome

Number:

01-HG-0095

Summary:

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.

Sponsoring Institute:

National Human Genome Research Institute (NHGRI)

Recruitment Detail

Type: Completed Study; data analyses ongoing

Gender: Male

Referral Letter Required: Yes

Population Exclusion(s): Female

Eligibility Criteria: This study is not currently recruiting new subjects. If you have questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.

Special Instructions:

Currently Not Provided

Keyword(s):

Archived Samples

Mutation Screening

Genotype-Phenotype Correlation

Pediatric Developmental Disorder

Cataracts

Mutation Detection

Recruitment Keyword(s):

Lowe Syndrome

Mutation Screening

Genotype

Condition(s):

Lowe Syndrome

Investigational Drug(s):

None

Investigational Device(s):

None

Interventions:

None

Supporting Site:

National Human Genome Research Institute

Contact(s):

This study is not currently recruiting new subjects. If you have questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.

Citation(s): Not Provided

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
• Technical questions regarding the Clinical Center web site, please contact the Department Clinical Research Informatics, CC.

Search The Studies | Help | Questions |
Clinical Center Home | NIH Home

National Institutes of Health Clinical Center
Bethesda, Maryland 20892. Last update: 01/30/2009