Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes

Descriptive Information
Brief Title † Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes
Official Title †
Brief Summary OBJECTIVES: I. Investigate phenotype and genotype correlations in patients with Smith-Magenis syndrome (SMS) associated with del(17p11.2). II. Clinically evaluate SMS patients with unusual deletions or duplication of proximal 17p. III. Clinically evaluate patients with Williams syndrome with molecular characterization of 7q11.23. IV. Perform clinical studies of Prader-Willi, Angelman, DiGeorge, and Shprintzen syndrome patients with unique molecular findings in 15q11q13 or 22q11.2. V. Perform genotype and phenotype correlations in Prader-Willi patients, particularly those with loss of expression of only some of the imprinted transcripts in 15q11-q13. VI. Evaluate putative Angelman syndrome patients who do not have classic large deletion, uniparental disomy, or imprinting mutations, and perform molecular studies of the Angelman gene, UBE3A, and identify mutations of this gene. VII. Investigate phenotype and genotype correlations in patients with terminal deletions of chromosome 1p.
Detailed Description PROTOCOL OUTLINE: Patients undergo clinical, cytogenetic, and molecular studies. These include radiographic, neurologic, developmental, and 24 hour sleep studies, ophthalmologic, otolaryngologic, speech and language, and audiologic exams, echocardiogram, and renal ultrasound. Smith-Magenis patients are also evaluated with the following: urine melatonin levels during day and night hours; anthropometrics; sleep and behavioral history; and renal, immunologic, and cholesterol studies. A clinical and phenotypic map is constructed. When appropriate, parental chromosome analysis is performed.
Study Phase N/A
Study Type † Observational
Study Design † Primary Purpose: Screening
Primary Outcome Measure †
Secondary Outcome Measure †
Condition † Williams Syndrome Angelman Syndrome Prader-Willi Syndrome Shprintzen Syndrome Smith-Magenis Syndrome DiGeorge Syndrome Chromosome Abnormalities
Intervention †
Study Arms / Comparison Groups
Publications *

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information
Recruitment Status †
Estimated Enrollment † 20
Start Date † September 1999
Completion Date
Primary Completion Date
Eligibility Criteria † PROTOCOL ENTRY CRITERIA: --Disease Characteristics-- Contiguous gene deletion syndrome, e.g.: Smith-Magenis syndrome Williams syndrome DiGeorge syndrome Shprintzen syndrome (velo-cardio-facial syndrome) Prader-Willi syndrome Angelman syndrome Deletion of chromosome 1p Patient age: Any age
Gender Both
Ages N/A - N/A
Accepts Healthy Volunteers No
Contacts ††
Location Countries † United States
Administrative Information
NCT ID † NCT00004351
Organization ID 199/11914
Secondary IDs †† BCM-H4299
Responsible Party
Study Sponsor † National Institute of Neurological Disorders and Stroke (NINDS)
Collaborators †† Baylor College of Medicine
Investigators † Study Chair: James R. Lupski, Baylor College of Medicine
Information Provided By
Verification Date October 2003
First Received Date † October 18, 1999
Last Updated Date June 23, 2005
† Required WHO trial registration data element.
†† WHO trial registration data element that is required only if it exists.
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