Sotos syndrome ..., Sotos syndrome) - Gen NSD1.
Sotos syndrome is a disorder characterized by a typical facial appearance, excessive growth in childhood, and learning or developmental delay. The characteristic facial features include a long , narrow face, a high forehead, cheeks flushed and a small, pointed chin. In addition, the outer corners of the eyes may be inclined downward. This aspect of the face is most noticeable in early childhood. Infants and children affected tend to grow rapidly and have an unusually large head. However, in adulthood, generally the range of normal height.
Those affected with Sotos syndrome often have intellectual impairment and behavioral problems. Behavioral issues include attention deficit hyperactivity disorder (ADHD), phobias, obsessions and compulsions, and impulsive behaviors. They are also frequent problems with speech and language, and often problems of speech, stuttering, and a monotone. In addition, weak muscle tone can delay other aspects of development, particularly basic motor skills such as sitting and crawling.
Other signs and symptoms of the syndrome may include scoliosis, seizures, heart defects or kidney disease , hearing loss and vision problems. Some infants with this disorder manifest yellowing of the skin and whites of the eyes. Some people with this syndrome have developed cancer, most often in childhood.
This syndrome is caused by mutations in the NSD1, located on the long arm of chromosome 5 (5q35). This gene encodes a protein involved in the normal growth and development, whose precise function is unknown. The most common condition causing genetic change Sotos syndrome removes the genetic material of the region of chromosome 5 containing the NSD1. There are more than 100 mutations in the NSD1 gene cause this syndrome. These mutations include insertions or deletions of a small portion of DNA Nucleotide changes gene.
About 95 percent of Sotos syndrome cases occur in people with no history of disease in your family. Most of these cases are the result of new mutations affecting NSD1. They described some families with more than one affected member. These cases have established that Sotos syndrome is an autosomal dominant inheritance, which means that a copy of the altered gene in each cell is sufficient to cause the disorder.
Tests in IVAMI: in IVAMI perform detection of mutations associated with Sotos syndrome, by complete PCR amplification of exons NSD1, and subsequent sequencing.
Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).