Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes
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Purpose
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.
| Condition |
|---|
|
Williams Syndrome Angelman Syndrome Prader-Willi Syndrome Shprintzen Syndrome Smith-Magenis Syndrome DiGeorge Syndrome Chromosome Abnormalities |
| Study Type: | Observational |
| Study Design: | Primary Purpose: Screening |
| Estimated Enrollment: | 20 |
| Study Start Date: | September 1999 |
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.
Eligibility| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
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
Contacts and Locations More Information
No publications provided
| ClinicalTrials.gov Identifier: | NCT00004351 History of Changes |
| Other Study ID Numbers: | 199/11914, BCM-H4299 |
| Study First Received: | October 18, 1999 |
| Last Updated: | June 23, 2005 |
| Health Authority: | United States: Federal Government |
Keywords provided by Office of Rare Diseases (ORD):
|
Angelman syndrome DiGeorge syndrome Prader-Willi syndrome Shprintzen syndrome Smith-Magenis syndrome |
Williams syndrome genetic diseases and dysmorphic syndromes neurologic and psychiatric disorders rare disease |
Additional relevant MeSH terms:
|
Congenital Abnormalities Chromosome Aberrations Chromosome Disorders DiGeorge Syndrome Prader-Willi Syndrome Angelman Syndrome Williams Syndrome Smith-Magenis Syndrome Pathologic Processes Genetic Diseases, Inborn 22q11 Deletion Syndrome Craniofacial Abnormalities Musculoskeletal Abnormalities Musculoskeletal Diseases Heart Defects, Congenital |
Cardiovascular Abnormalities Cardiovascular Diseases Heart Diseases Lymphatic Abnormalities Lymphatic Diseases Abnormalities, Multiple Hypoparathyroidism Parathyroid Diseases Endocrine System Diseases Mental Retardation Neurobehavioral Manifestations Neurologic Manifestations Nervous System Diseases Obesity Overnutrition |
ClinicalTrials.gov processed this record on May 19, 2013