The Phenotype and Etiology of Proteus Syndrome and Related Overgrowth Disorders

Trial Information

The Phenotype and Etiology of Proteus Syndrome and Related Overgrowth Disorders

The purpose of this project is to determine the natural history and etiology of Proteus

syndrome. The natural history and the phenotypic range will be determined by clinical

assessment and longitudinal follow-up of a cohort of patients. Subjects will be screened for

eligibility using published diagnostic criteria for Proteus syndrome. The determination of
the

molecular etiology of this disorder will be difficult. It is extremely rare, affected
patients have a

shortened lifespan, and the disorder is sporadic. Thus the typical approach of positional

cloning is not useful. The etiology of this disorder will be studied using various
comparative

molecular biology techniques including cDNA arrays, genomic arrays, subtractive techniques,

testing of candidate genes, and other appropriate techniques. We will also test for

dysregulation of growth controlling hormones and binding proteins in vivo.