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

Brief Title

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


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.
    

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 Type

Observational




Condition

Williams Syndrome



Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

20

Start Date

September 1999



Eligibility 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
      

Gender

All

Ages

N/A - N/A

Accepts Healthy Volunteers

No

Contacts

James R. Lupski, , 

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT00004351

Organization ID

199/11914

Secondary IDs

BCM-H4299


Study Sponsor

National Institute of Neurological Disorders and Stroke (NINDS)

Collaborators

 Baylor College of Medicine

Study Sponsor

James R. Lupski, Study Chair, Baylor College of Medicine


Verification Date

October 2003