Milroy's Disease ... (Milroy disease) - Gen FLT4.
Milroy's disease is a disorder that affects the normal function of the lymphatic system. The lymphatic system produces and transports fluids and immune cells throughout the body. Transportation deterioration with accumulation of lindaco can cause lymphedema.
Individuals with Milroy disease have lymphedema in the legs and feet at birth or develop in childhood. In general, lymphedema occurs on both sides of the body and may worsen with time. Lymphedema addition, affected individuals may have oblique nails up, deep folds on the toes, papillomas and prominent veins in the legs. Some people develop cellulite that can damage the lymphatic vessels. Some affected males are born with an accumulation of fluid in the scrotum.
This process is due to mutations in the gene FLT4, located on the long Braz of chromosome 5 (5q35.3), encoding a protein receptor called vascular endothelial growth factor 3 (VEGFR-3). This factor, regulates the development and maintenance of the lymphatic system. The lymphatic system produces and transports fluids and immune cells throughout the body. VEGFR-3 is activated by two proteins called vascular endothelial growth factor C (VEGF-C) and vascular endothelial growth factor D (VEGF-D). When VEGF-C and VEGF-D (BIND) for VEGFR-3 binding, chemical signals that regulate growth, movement, and survival of lymphoid cells occur.
They have identified at least 19 mutations in the gene causing the FLT4 Milroy disease. Most mutations in this gene change in a single amino acid regions known as tyrosine kinase domains. Mutations in these regions disrupted signaling of VEGFR-3 resulting in the development of small lymph vessels or lack of them. If lymph not transported properly, it accumulates in the tissues and cause lymphedema. It is not known how mutations in the gene lead to FLT4 other features of the disease. Many individuals with Milroy's disease have a mutation in the gene FLT4. In these individuals, the cause of the disturbance is unknown.
This disease is inherited as an autosomal dominant, which means that a copy of the altered gene in each cell is sufficient to cause the alteration. In many cases, an affected person inherits the mutation from an affected parent. Other cases may be the result of new mutations in the FLT4 gene. These cases occur in people with no history of disease in your family. Between 10 and 15 percent of people with a mutation in the gene characteristics do not develop the disease.
Tests in IVAMI: in IVAMI perform detection of mutations associated with Milroy disease, by complete PCR amplification of exons FLT4 gene, 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).