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What is Sotos Syndrome? Sotos Syndrome is also known as cerebral gigantism.It is a condition that occurs due to genetic reasons which leads to having physical overgrowth upon the first years of their life and having a head and facial appearance that are distinctive.
Picture 4 : Sotos Syndrome photo. Image source : wikimedia.org. Sotos Syndrome Causes. Sotos syndrome is caused by the mutation of the NSD1 gene. The NSD1 gene is responsible for making the protein that regulates the growth and development of a child. There is no empirical evidence to show that sotos syndrome runs in families.
What causes Sotos syndrome? The primary cause of sotos syndrome is NSD1 gene mutation. What is NSD1 gene? It is the one responsible in providing instructions for making a protein that works as histone methyltransferase, an enzyme that modifies histone (structural protein) that is attached to the DNA.
What is Sotos Syndrome? Sotos syndrome, also known as cerebral gigantism due to its characteristic head shape and size, is listed as an uncommon form of variable autosomal dominant hereditary disorder differentiated by the excessive physical growth all through the first year to the third year of life.
Sotos syndrome is a genetic disorder caused by a mutation of the NSD1 gene. The two main symptoms of Sotos syndrome are overgrowth and intellectual disability. It is often diagnosed in infancy or early childhood. Once growth stops, adults with Sotos can maintain normal height and weight, and even intellect.
Sotos syndrome is inherited in an autosomal dominant manner. This means that having a mutation in only one of the 2 copies of the responsible gene (the NSD1 gene) is enough to cause signs and symptoms of the condition. 95% of people with Sotos syndrome do not inherit the condition from a parent.