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

NCT ID: NCT00004351

Last Updated: 2005-06-24

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

20 participants

Study Classification

OBSERVATIONAL

Study Start Date

1999-09-30

Brief Summary

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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

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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.

Conditions

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Williams Syndrome Angelman Syndrome Prader-Willi Syndrome Shprintzen Syndrome Smith-Magenis Syndrome DiGeorge Syndrome Chromosome Abnormalities

Eligibility Criteria

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Inclusion 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
Minimum Eligible Age

0 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Baylor College of Medicine

OTHER

Sponsor Role collaborator

National Institute of Neurological Disorders and Stroke (NINDS)

NIH

Sponsor Role lead

Principal Investigators

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James R. Lupski

Role: STUDY_CHAIR

Baylor College of Medicine

Locations

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Baylor College of Medicine

Houston, Texas, United States

Site Status

Countries

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United States

Other Identifiers

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BCM-H4299

Identifier Type: -

Identifier Source: secondary_id

199/11914

Identifier Type: -

Identifier Source: org_study_id