What is the genetic cause of Proteus syndrome?

What is the genetic cause of Proteus syndrome?

Proteus syndrome is caused by a variant in a growth regulatory gene called AKT1 that occurs after fertilization of the embryo (somatic mutation). Affected persons have some cells with a normal copy of this regulatory gene and some cells with the abnormal gene (mosaic).

Can you get Proteus syndrome later in life?

The condition can affect quality of life, but people with Proteus syndrome can age normally with medical intervention and monitoring.

What is the history of Proteus syndrome?

The syndrome is named after the Greek sea-god Proteus, who could change his shape. The condition appears to have been first described in the American medical literature by Samia Temtamy and John Rogers in 1976. Michael Cohen described it in 1979.

How long do people with Proteus syndrome live?

Life expectancy is 9 months to 29 years, according to “Radiologic manifestations of Proteus syndrome” published in the Radiological Society of North America journal RadioGraphics.

Is Proteus curable?

Proteus syndrome cannot be cured. There are, however, several medical options to manage the signs and symptoms of the condition. Proteus syndrome, also called elattoproteus syndrome or elephant man disease, is a rare genetic condition affecting about one in a million people in the world.

What makes Proteus syndrome a rare genetic disorder?

General Discussion. Proteus syndrome is a rare disorder characterized by overgrowth of various tissues of the body. The cause of the disorder is a mosaic variant in a gene called AKT1.

When does overgrowth of Proteus syndrome become apparent?

The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently. Newborns with Proteus syndrome have few or no signs of the condition. Overgrowth becomes apparent between the ages of 6 and 18 months and gets more severe with age.

Who is the medical doctor for Proteus syndrome?

Rochelle Collins, DO, is a board-certified family medicine doctor currently practicing in Bloomfield, Connecticut. Proteus syndrome is an extremely rare genetic condition that causes tissues of the body, such as skin and bone, to overgrow. The overgrowth often happens disproportionately, and can severely change a person’s appearance.

Why are AKT1 mutations more common in Proteus syndrome?

Increased cell proliferation in various tissues and organs leads to the abnormal growth characteristic of Proteus syndrome. Studies suggest that an AKT1 gene mutation is more common in groups of cells that experience overgrowth than in the parts of the body that grow normally.

General Discussion. Proteus syndrome is a rare disorder characterized by overgrowth of various tissues of the body. The cause of the disorder is a mosaic variant in a gene called AKT1.

Increased cell proliferation in various tissues and organs leads to the abnormal growth characteristic of Proteus syndrome. Studies suggest that an AKT1 gene mutation is more common in groups of cells that experience overgrowth than in the parts of the body that grow normally.

When do you know if you have Proteus syndrome?

Newborns with Proteus syndrome have few or no signs of the condition. Overgrowth becomes apparent between the ages of 6 and 18 months and gets more severe with age. In people with Proteus syndrome, the pattern of overgrowth varies greatly but can affect almost any part of the body. Bones in the limbs, skull, and spine are often affected.

How is Proteus syndrome a somatic activating mutation?

Proteus syndrome is caused by a somatic activating mutation in AKT1, implicating activation of the PI3K–AKT pathway ( Lindhurst et al., 2011 ).