Genetic Study of Sitosterolemia

National Center for Research Resources (NCRR)

Status: Completed

Conditions: Lipid Metabolism, Inborn Errors; Sitosterolemia

Treatments: Procedure: genetic testing

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT00004481

NCRR-M01RR01070-0470

MUSC-HR-8022

Details and patient eligibility

About

OBJECTIVES:

I. Identify the genetic defect and fine map the gene that causes sitosterolemia.

Full description

PROTOCOL OUTLINE: Patients, family members, and normal volunteers provide blood samples for genetic studies and may fill out a general health and medication history.

Linkage analysis and microsatellite screening is performed on genomic DNA, especially chromosome 2p21, between microsatellite markers D2S1788 and D2S1352.

Positive results may be reported to the patient and may influence future treatment.

Sex: All

Volunteers: Accepts Healthy Volunteers

Inclusion and exclusion criteria

PROTOCOL ENTRY CRITERIA:

--Disease Characteristics--

• Diagnosis of sitosterolemia Presence of tendon and tuberous xanthomas Premature atherosclerotic disease No family history of premature coronary artery disease Normal or elevated plasma cholesterol levels

OR

• Family member of patient with sitosterolemia

OR

• Normal volunteer