Genetic diseases: Angelman syndrome

Definition

In our post today about genetic diseases we will talk about Angelman syndrome. It is a neurogenetic disorder which is present from birth and affects the nervous system causing both physical and intellectual disability.

Causes

Angelman syndrome is a genetic disorder caused by alterations in the UBE3A gene, located on chromosome 15. All known disorders that cause Angelman syndrome involve an alteration of this gene on the mother's chromosome 15. In all cases, the symptoms are similar (mental retardation, speech impairment, peculiar behavior, etc.).

Genetics of the disease

Angelman syndrome is caused by the loss of function of the gene called UBE3A (located on chromosome 15). We inherit one copy of this gene from each parent, with the maternal copy being the one normally active in the brain. Therefore, if this gene were damaged, missing a portion (deletion), or absent, it would cause the disease. In some cases, it can also occur when two copies of the paternal gene are inherited (uniparental disomy) instead of one from each parent. Other causes of Angelman syndrome include defects in the imprinting center or a mutation in the UBE3A gene, which derives from the mother's chromosome 15. In these cases, the clinical manifestations are usually not as severe.

Symptoms

The symptoms of this disease include delayed psychomotor development, epilepsy, language difficulties, poor motor coordination, balance and movement problems, hyperactivity, etc. A characteristic feature of Angelman syndrome is that people who suffer from it frequently smile, always looking happy.

Diagnosis

Problems begin to become noticeable with the child's development and are often diagnosed between 3 and 7 years of age. The vast majority of those affected are diagnosed based on the clinical picture and genetic testing to detect abnormalities (chromosomal studies). www.genotica.com We have tests that study the disease and its related mutations, such as the case del(15q12) from Cidegen.

Treatment

There is currently no cure for the disease; treatments are primarily symptom-relieving.