Majeed syndrome ... (Majeed syndrome) - Gen LPIN2.
Majeed syndrome is a rare disease characterized by recurrent episodes of fever and inflammation in the bones and skin. One of the main features of Majeed syndrome is inflammatory bone disorder called chronic relapsing (CRMO) multifocal osteomyelitis. This disturbance causes recurrent episodes of pain and swelling start in childhood or early childhood. Although they can improve for short periods, these symptoms persist into adulthood. The CRMO can lead to complications such as slow growth and development of contractures, which restrict the movement of certain joints. Another feature of Majeed syndrome congenital dyserythropoietic anemia is, in which the blood can not carry an adequate supply of oxygen to body tissues. As a result, affected individuals may exhibit fatigue, weakness, pale skin, and shortness of breath. Complications of congenital anemia Dyserythropoietic can range from mild to severe. Most people with Majeed syndrome also develop inflammatory skin disorders, known as Sweet syndrome. Symptoms include fever Sweet syndrome and development of bumps or painful blisters on the face, neck, back and arms.
This process is due to mutations in the gene LPIN2, located on the short arm of chromosome 18 (18p11.31). This gene encodes a protein called lipina-2. It is believed that this protein may play a role in lipid metabolism. Furthermore, it may be involved in the control of inflammation and cell division.
They have identified at least 3 LPIN2 gene mutations in people with Majeed syndrome. These mutations alter the structure and function of lipina-2, resulting in abnormal chronic inflammation in some of the tissues. However, it is unclear how LPIN2 genetic mutations lead to the characteristics of Majeed syndrome, including bone disease, anemia, and inflammatory skin disorders.
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. Some parents of children with Majeed syndrome have an inflammatory skin disorder called psoriasis.
Tests in IVAMI: in IVAMI perform detection of mutations associated with Majeed syndrome by complete PCR amplification of exons LPIN2 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).