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

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.

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Key information

Conditions

Williams Syndrome 22q11 Deletion Syndrome Abnormalities, Multiple Angelman Syndrome Aortic Stenosis, Supravalvular Aortic Valve Disease Aortic Valve Stenosis Cardiovascular Abnormalities Cardiovascular Diseases Central Nervous System Diseases Chromosome Aberrations Chromosome Abnormalities Chromosome Disorders Chronobiology Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Craniofacial Abnormalities DiGeorge Syndrome Disease Attributes Endocrine System Diseases Genetic Diseases, Inborn Heart Defects, Congenital Heart Diseases Heart Valve Diseases Hemic and Lymphatic Diseases Hypoparathyroidism Imprinting Disorders Intellectual Disability Lymphatic Abnormalities Lymphatic Diseases Mental Disorders Movement Disorders Musculoskeletal Abnormalities Musculoskeletal Diseases Nervous System Diseases Neurobehavioral Manifestations Neurologic Manifestations Nutrition Disorders Nutritional and Metabolic Diseases Obesity Overnutrition Overweight Parathyroid Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Prader-Willi Syndrome Rare Diseases Shprintzen Syndrome Signs and Symptoms Smith-Magenis Syndrome

Age range

0 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Baylor College of Medicine

Houston, Texas, 77030, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Sponsors and collaborators

Lead sponsor

National Institute of Neurological Disorders and Stroke (NINDS)

Nih

Collaborators

Baylor College of Medicine

Registry information

Important dates

Study start: 1999
First posted: Oct 19, 1999
Registry last updated: Jun 24, 2005

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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