This study seeks to delineate the clinical and molecular features of Proteus syndrome. Proteus syndrome is a sporadic disorder that includes soft and bony tissue overgrowth, mental retardation, and tumor predisposition. It is extremely rare and difficult to diagnose. We will gather affected subjects and evaluate in detail from a clinical perspective to understand the range of manifestations of the disorder and the natural history. In addition, we will use new molecular tools of subtractive cloning techniques, cDNA arrays, differential display, etc. to begin to understand the gene pathway that is perturbed in this disorder. - Mental retardation, Pediatric research, cancer research, dental/oral disease, brain disorders, clinical research, diagnostic radiology - Human Subjects

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Intramural Research (Z01)
Project #
1Z01HG000139-01
Application #
6227984
Study Section
Special Emphasis Panel (GDRB)
Project Start
Project End
Budget Start
Budget End
Support Year
1
Fiscal Year
1999
Total Cost
Indirect Cost
Name
National Human Genome Research Institute
Department
Type
DUNS #
City
State
Country
United States
Zip Code
Biesecker, L G; Happle, R; Mulliken, J B et al. (1999) Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet 84:389-95
Fuller, B P; Kahn, M J; Barr, P A et al. (1999) Privacy in genetics research. Science 285:1359-61