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

NCT00004351 | Completed

• 2 other identifiers: 199/11914BCM-H4299
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 1

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.

Conditions

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

Keywords

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

Eligibility Criteria

• Age: 0 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

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

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

• National Institute of Neurological Disorders and Stroke (NINDS): lead
• Baylor College of Medicine: collaborator

Study Sites (1)

Baylor College of Medicine

Houston, Texas, 77030, United States

Location

MeSH Terms

Conditions

Williams Syndrome; Angelman Syndrome; Prader-Willi Syndrome; DiGeorge Syndrome; Smith-Magenis Syndrome; Chromosome Aberrations; Genetic Diseases, Inborn; Neurologic Manifestations; Mental Disorders; Rare Diseases

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Nervous System Diseases; Aortic Stenosis, Supravalvular; Aortic Valve Stenosis; Aortic Valve Disease; Heart Valve Diseases; Heart Diseases; Cardiovascular Diseases; Chromosome Disorders; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Movement Disorders; Central Nervous System Diseases; Abnormalities, Multiple; Imprinting Disorders; Obesity; Overweight; Overnutrition; Nutrition Disorders; Nutritional and Metabolic Diseases; 22q11 Deletion Syndrome; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Musculoskeletal Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Lymphatic Abnormalities; Lymphatic Diseases; Hemic and Lymphatic Diseases; Hypoparathyroidism; Parathyroid Diseases; Endocrine System Diseases; Chronobiology Disorders; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Signs and Symptoms; Disease Attributes

Study Officials

• James R. Lupski

  Baylor College of Medicine

  STUDY CHAIR

Study Design

• Study Type: observational
• Sponsor Type: NIH

Study Record Dates

• First Submitted: October 18, 1999
• First Posted: October 19, 1999
• Study Start: September 1, 1999
• Last Updated: June 24, 2005

Record last verified: 2003-10

Locations

US (1)