Ullrich congenital muscular dystrophy (Ullrich congenital muscular dystrophy) - Genes COL6A1, COL6A2 and COL6A3.
Congenital muscular dystrophy Ullrich is a disease that mainly affects skeletal muscles. Generally, affected individuals show muscle weakness shortly after birth. This is often severe muscle weakness and individuals most affected are unable to walk unassisted. Affected individuals develop stiffness in the joints of your knees and elbows that can restrict movement. These people have hypermobility on her wrists and ankles. Respiratory muscles may also weaken, requiring mechanical ventilation. In addition, some people have skin abnormalities as follicular hyperkeratosis that develops around the elbows and knees.
This disease is due to mutations in the COL6A1 genes, located on the long arm of chromosome 21 (21q22.3), COL6A2, located on the long arm of chromosome 21 (21q22.3) and COL6A3, located on the long arm of chromosome 2 (2q37). Each of these genes encodes a component (?1 chain, ?2 and ?3, respectively) of a protein called collagen type VI. This protein plays an important role in muscle, particularly in skeletal muscle. VI collagen type part of the extracellular matrix surrounding the muscle cells necessary for stability and growth of muscle cells.
They have identified at least 12 gene mutations in COL6A1, COL6A2 23 mutations in the gene and 10 mutations in the COL6A3 gene in people with Ullrich congenital muscular dystrophy. Most of these mutations change amino acids in the chain ?1, ?2 and ?3, leading to the absence or a significant deficiency of collagen type VI. A lack of collagen type VI extracellular matrix surrounding muscle cells is disrupted, leading to muscle weakness and other signs and symptoms of congenital muscular dystrophy Ullrich.
This disease is inherited in an autosomal recessive pattern, that is, both copies of the gene in every cell must have mutations for alteration is expressed. The parents of an individual with an autosomal recessive disease have a copy of the mutated gene, but usually show no signs and symptoms of the disease. This disease can also be inherited in an autosomal dominant pattern, which means that a copy of the altered gene in each cell is sufficient to cause the alteration. Most cases are due to 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 Ullrich congenital muscular dystrophy by the complete PCR amplification of the exons of the COL6A1, COL6A3 COL6A2 and genes, respectively, 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).