SNP Shot: Genomic Insights

PGM3-CDG is a genetic disorder passed down through families. It primarily affects the immune system, but can also impact other parts of the body. The symptoms of this condition can vary significantly from person to person.

A common feature of PGM3-CDG is a weakened immune system (immune deficiency). Many individuals have a reduced number of white blood cells (leukopenia), which are essential for fighting off infections. This deficiency makes them susceptible to recurring infections, often affecting the lungs, ears, skin, or digestive system. In severe cases, the bone marrow's ability to produce blood cells can be compromised, leading to bone marrow failure. Allergies, asthma, and eczema are also frequently observed. Furthermore, individuals may develop autoimmunity, where the body mistakenly attacks its own tissues. Due to persistent illness, children with PGM3-CDG may experience slower growth.

Individuals with PGM3-CDG often exhibit elevated levels of antibodies (immunoglobulins), especially immunoglobulin E (IgE). These proteins normally help the body defend against infections. The exact role of these abnormal antibody levels in PGM3-CDG is not fully understood.

Intellectual disability, developmental delays, and reduced muscle tone (hypotonia) are also common in PGM3-CDG. Skeletal abnormalities, particularly affecting the ribs, hands, feet, or spine, are frequently observed. Some individuals may have characteristic facial features, including a flattened or sunken midface (midface hypoplasia), a small chin (micrognathia), full lips, downturned mouth corners, and wide nostrils facing forward. Problems involving the lungs, digestive system, and kidneys can also occur.

The life expectancy of individuals with PGM3-CDG varies greatly, ranging from infancy to late adulthood.

Inheritance:

PGM3-CDG follows an autosomal recessive inheritance pattern. This means that an individual must inherit a mutated copy of the gene from both parents to develop the condition. Parents who each carry one copy of the mutated gene usually do not exhibit any symptoms of the disorder.