Chanarin-Dorfman syndrome ... (Chanarin-Dorfman syndrome) - Gen ABHD5
Syndrome Chanarin Dorfman is a disorder in which fats are stored abnormally in the body. Affected individuals can not break down triglycerides, and they accumulate in organs and tissues, including skin, liver, muscles, intestines, eyes and ears. People with this condition have also dry, scaly skin (ichthyosis), usually present from birth. Additional features include hepatomegaly, cataracts, ataxia, short stature, muscle weakness (myopathy), nystagmus and mild intellectual disability. Signs and symptoms vary widely among individuals with Chanarin-Dorfman syndrome, so that some people may have only ichthyosis, while others may have problems that affect many areas of the body.
Mutations in the gene ABHD5, located on the short arm of chromosome 3 (3p21), are responsible for Chanarin Dorfman syndrome. The ABHD5 gene encoding the protein that activates the ATGL enzyme that breaks down triglycerides. Triglycerides are the main component of adiposomas. The ABHD5 ATGL protein and enzyme on the surface of adiposomas. Once activated, the enzyme breaks down triglycerides ATGL in these structures to provide energy for the body.
We found at least 20 mutations in the gene ABHD5. These mutations alter the ability of the protein to trigger ABHD5 ATGL enzyme. Without the enzyme active ATGL, triglycerides can not be broken. As a result, these fats accumulate in various organs and tissues throughout the body, leading to the signs and symptoms of Chanarin-Dorfman syndrome.
This disease is inherited in an autosomal recessive pattern, which means that 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.
Tests in IVAMI: in IVAMI perform detection of mutations associated with syndrome Chanarin Dorfman, by complete PCR amplification of the exons of the gene ABHD5, 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).