Nail-Patella Syndrome (Nail-patella syndrome) - Gen LMX1B.
Syndrome Nail-Patella is a disorder characterized by abnormal nails, knees, elbows and pelvis. These characteristics vary in intensity among individuals affected, even among members of the same family.
Nail abnormalities include absence or poor development, bleaching, and triangular division crescents. The nails of the fingers tend to be affected more than those of the toes. Skeletal abnormalities involving knees, elbows , and hips include lozenges small, kneecaps irregularly or lack thereof, elbows angled outward (cubitus valgus), overgrowth of iliac crests of the pelvis. Other parts of the body can also be affected, especially eyes and kidneys. People with the syndrome Nail-Patella are at risk of developing glaucoma at an early age. Some people develop kidney disease, which can progress to kidney failure.
Syndrome Nail-Patella is due to mutations in LMX1B gene, located on the long arm of chromosome 9 (9q33.3). This gene encodes a protein transcription factor which appears to be particularly important during early embryonic development of the limbs, kidneys and eyes.
They have identified at least 145 mutations in LMX1B gene, which cause Nail-Patella Syndrome of. Most mutations result encoding an abnormally short, nonfunctional version of the protein or changing amino acids in protein. Mutations that replace one amino acid with another amino acid to reduce or eliminate the ability of the protein to bind to DNA, altering the regulation of other genes during early development. It is unclear how mutations in the gene give rise to LMX1B you signs and symptoms of the disease.
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 most cases, an affected person inherits the mutation from an affected parent. Other cases may result from new mutations in the gene and occur in people with no history of disease in your family.
Tests in IVAMI: in IVAMI perform detection of mutations associated with syndrome Nail-Patella, by complete PCR amplification of the exons of the gene LMX1B, 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).