Floating-Harbor syndrome ... (Floating Harbor syndrome) - Gen SRCAP.
Syndrome Floating-Harbor is a disorder characterized by short stature, slowing bone mineralization, delayed speech development, and characteristic facial features. Signs and symptoms of the syndrome involve an iron deficiency in people with the syndrome is usually evident in the first year of life. Affected individuals are usually 5 percent lower compared to their age group. Although bone age delay in early childhood, leading for example to a 3 year old may be more typical of a 2 bones, between 6 and 12 years of bone age development normalized. Delayed language development can be severe, causing problems in verbal communication. In addition, most affected individuals also have mild intellectual disability. Typical facial features in people with the syndrome include a triangular face, low hairline, sunken eyes, long eyelashes, nose large, outstanding columella between the nostrils, a short philtrum, thin lips. As affected children grow and mature, the nose becomes more prominent. In some affected individuals, there are some additional features that include brachydactyly, fingertips flared and rounded, curved pinkies, unusually high - pitched voice and cryptorchidism in males.
This syndrome is caused by mutations in the gene SRCAP, located on the short arm (p) of chromosome 16 (16p11.2), encoding Snf2 related protein activator proteins or SRCAP CREBBP. SRCAP is one of several proteins that activate the gene CREBBP. The protein produced from the gene CREBBP plays a key role in regulating cell growth and division and is important for normal development.
They have identified at least five genetic mutations in the gene that cause SRCAP Floating-Harbor syndrome, leading to the synthesis of an altered protein Snf2 that interferes with the normal activation of gene CREBBP, causing problems in development. However, the relationship between gene mutations SRCAP and specific signs and symptoms of the syndrome is unknown.
This syndrome is inherited as an autosomal dominant, which means a copy of the altered gene in each cell it is sufficient to cause the disorder.
Tests in IVAMI: in IVAMI perform detection of mutations associated with syndrome Floating-Harbor, by complete PCR amplification of the exons of the gene SRCAP 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).