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

Sponsor

National Institute of Neurological Disorders and Stroke (NINDS) (NIH)

Overall Status

Completed

CT.gov ID

NCT00004351

Collaborator

Baylor College of Medicine (Other)

Enrollment

Location

Study Details

Study Description

Brief Summary

OBJECTIVES: I. Investigate phenotype and genotype correlations in patients with Smith-Magenis syndrome (SMS) associated with del(17p11.2).

Clinically evaluate SMS patients with unusual deletions or duplication of proximal 17p.
Clinically evaluate patients with Williams syndrome with molecular characterization of 7q11.23.
Perform clinical studies of Prader-Willi, Angelman, DiGeorge, and Shprintzen syndrome patients with unique molecular findings in 15q11q13 or 22q11.2.
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.
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.
Investigate phenotype and genotype correlations in patients with terminal deletions of chromosome 1p.

Condition or Disease	Intervention/Treatment	Phase
Williams Syndrome Angelman Syndrome Prader-Willi Syndrome Shprintzen Syndrome Smith-Magenis Syndrome DiGeorge Syndrome Chromosome Abnormalities

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 Design

Study Type:

Observational

Study Start Date :

Sep 1, 1999

Outcome Measures

Primary Outcome Measures

Eligibility Criteria

Criteria

Ages Eligible for Study:

0 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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