PMM2-Related Disorder

What is PMM2-Related Disorder?

PMM2-Related Disorder (congenital disorder of glycosylation type la) is an inherited condition that triggers a wide variety of different symptoms in different individuals with the condition. Even individuals within the same family with the disorder can present with very different symptoms and severity of symptoms.

The disorder can present with some serious symptoms and 20% of infants with the disorder will die in the first year of life due to organ failure.

The disorder has been diagnosed in only around 1000 individuals worldwide to date. It is part of a growing family of very rare inherited metabolic disorders.

What gene changes cause PMM2-Related Disorder?

As with other glycosylation disorders it is caused by an enzymatic defect in the synthesizing and processing of glycans, glycoproteins and/or oligosaccharides.

Mutations in the PMM2 gene are responsible for the disorder. The condition is inherited in an autosomal recessive pattern, meaning both parents carry copies of the mutated gene.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of PMM2-Related Disorder?

Symptoms may vary considerably between individuals with the syndrome.

Some of the most common facial features include a high forehead, triangular face, large ears, a thin upper lip, high palate, dental problems and eyes that point in different directions (alternating strabismus).

Low muscle tone, inverted nipples, and an abnormal distribution of fat are other possible main symptoms. Individuals may also have developmental delay and a failure to thrive and a failure to gain weight. Mild to moderate intellectual disability is also common, as is motor delay due to an underdeveloped cerebellum.

Other health conditions associated with the syndrome include a buildup of fluid around the heart, blood clotting disorders, stroke like episodes and seizures as individuals move into adulthood as well as developing issues with the spine and joints.

Males with the disorder experience normal puberty but females do not go through puberty.

How does someone get tested for PMM2-Related Disorder?

The initial testing for PMM2-Related Disorder can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow. 

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.   

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