What gene is mutated in Proteus syndrome?
Proteus syndrome results from a mutation in the AKT1 gene. This genetic change is not inherited from a parent; it arises randomly in one cell during the early stages of development before birth. As cells continue to grow and divide, some cells will have the mutation and other cells will not.
Is Proteus syndrome A point mutation?
In July of 2011, a team led by researchers at the National Institutes of Health discovered that the genetic cause of the condition is a point mutation – a single-letter misspelling in the DNA of the genetic code – in the AKT1 gene that causes sporadic tissue growth.
What are the characteristics of Proteus syndrome?
Symptoms of Proteus syndrome raised, rough skin lesions that may have a bumpy, grooved appearance. a curved spine, also called scoliosis. fatty overgrowths, often on the stomach, arms, and legs. noncancerous tumors, often found on the ovaries, and membranes that cover the brain and spinal cord.
Is Proteus syndrome autosomal dominant?
PTHS is inherited in an autosomal dominant manner; PS is not inherited. Thus, the genetic implications in the two disorders are quite distinct, providing further argument for a clear distinction between individuals affected with PS and those with PTHS.
What does the AKT1 gene do?
The AKT1 gene provides instructions for making a protein called AKT1 kinase. This protein is found in various cell types throughout the body, where it plays a critical role in many signaling pathways.
What causes Elephant Man?
Only a few hundred people in the world have Proteus syndrome, a bizarre condition in which a mutant gene causes asymmetrical growth of body parts. The syndrome can be horribly disfiguring, as you can see in this illustration of Joseph Merrick, the 19th Century Englishman who became known as the Elephant Man.
Who has done research on Proteus syndrome?
The team was led by researchers at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health. Proteus syndrome gained wide public attention in 1980, through the movie “The Elephant Man,” about a 19th century Londoner whom experts believe may have suffered from the disease.
Is Proteus syndrome harmful?
Children and adults with Proteus syndrome are at risk to get a type of blood clot called a “DVT,” or deep vein thrombosis, which can cause a serious problem called a pulmonary embolism. It is important for doctors caring for people with Proteus syndrome to be aware of this risk.
How is Proteus syndrome tested?
AKT1 testing should be offered to patients suspected of having Proteus syndrome. A punch biopsy of affected tissue is ideal, but a skin scraping of epidermal nevi has been noted to be effective. Because the mutation is somatic, peripheral blood testing is not high yield in diagnosis.
What causes Proteus syndrome?
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. Disproportionate, asymmetric overgrowth occurs in a mosaic pattern (i.e., a random “patchy” pattern of affected and unaffected areas).
Is Proteus syndrome the same as elephantiasis?
Genital elephantiasis, end result of lymphogranuloma venereum. Proteus syndrome, a genetic disorder best known as the condition possibly suffered by Joseph Merrick, the so-called “Elephant Man.”
Is Proteus syndrome the same as neurofibromatosis?
But modern scientists think it is just as likely that John Merrick had Proteus syndrome, a condition that is similar to neurofibromatosis but much more disfiguring. “Most people with NF are not that severely disfigured, although some are,” said Dr.
What is Elephant Man disease?
Proteus syndrome is one of the rarest genetic conditions in the world. The syndrome causes abnormal overgrowth in certain parts of the body. It is commonly called the Elephant Man disease. This overgrowth results in significant lifelong physical differences and potential disabilities.
Where did Proteus syndrome originate?
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.
How common is ATM gene mutation?
A-T is rare. It is estimated that A-T affects 1 in 40,000 to 1 in 100,000 people. The chance that a person is a carrier of a single ATM gene mutation is about 1%, or 1 in 100.
Is Proteus syndrome inherited?
It is not inherited, but occurs as a random mutation in a body cell in a developing baby (fetus) early in pregnancy. The AKT1 gene mutation affects only a portion of the body cells. This is why only a portion of the body is affected and why individuals with Proteus syndrome can be very differently affected.
How is Proteus syndrome diagnosed?
Diagnosis of Proteus syndrome is made using published clinical diagnostic criteria and molecular testing. Confirming a diagnosis of Proteus syndrome can be difficult and the interpretation of the clinical diagnostic criteria is controversial.
Why does Proteus syndrome cause neurological and facial abnormalities?
The reason for the association of neurological and facial abnormalities is unknown. Some individuals with Proteus syndrome may develop cystic lung disease, kidney or urinary abnormalities, and eye abnormalities such as crossed eyes (strabismus) or benign cysts or tumors of the eyeballs (epibulbar cysts or dermoids).
Why is Proteus disease so variable?
The variability of symptoms associated with Proteus is due in part to the ratio of healthy cells to abnormal cells. When all cells have the abnormal gene, the condition is not compatible with life. Researchers believe that this somatic mutation occurs randomly for no apparent reason (sporadically).