Proteus syndrome is an ultra-rare genetic condition characterized by aberrant overgrowth of tissues including the skin, connective tissue and brain. Although patients may have minimal or no manifestations at birth, the disease develops and becomes apparent in early childhood (6-18 months) and rapidly progresses with intense growth in the first 10 years of life. There are currently no medicinal treatment options, so the disease is managed through repeated surgical interventions.
A landmark discovery by researchers from the National Human Genome Research Institute at the NIH demonstrated that a somatic mosaic mutation in the AKT1 oncogene is the underlying genetic alteration that causes Proteus syndrome. AKT1 is a critical component of the AKT pathway which, when abnormally activated, is implicated in multiple oncogenic processes such as cell proliferation and apoptosis. Since the mutation occurs in somatic cells, Proteus syndrome is not inherited. A single point mutation arises randomly during early embryonic development and causes the condition.
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A landmark discovery by researchers from the National Human Genome Research Institute at the NIH demonstrated that a somatic mosaic mutation in the AKT1 oncogene is the underlying genetic alteration that causes Proteus syndrome. AKT1 is a critical component of the AKT pathway which, when abnormally activated, is implicated in multiple oncogenic processes such as cell proliferation and apoptosis. Since the mutation occurs in somatic cells, Proteus syndrome is not inherited. A single point mutation arises randomly during early embryonic development and causes the condition.
For more information, please visit:
- GeneReviews: Proteus Syndrome
- NIH Genetic and Rare Diseases Information Center: Proteus syndrome
- NIH Genetics Home Reference: Proteus Syndrome
