SNP Shot: Genomic Insights

Corticosteroid-binding globulin (CBG) deficiency presents with varying signs and symptoms, the most common being severe fatigue, particularly after physical activity. Low blood pressure (hypotension) is also frequently observed in individuals with this condition. Additionally, some individuals may experience a fatty liver or persistent pain, especially in their muscles. The specific symptoms and their severity can differ greatly, even among family members.

Often, individuals with CBG deficiency exhibit only one or two of these characteristics, while others remain asymptomatic. These individuals may only be diagnosed following the identification of the condition in a relative.

A subset of individuals with CBG deficiency also have myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS). ME/CFS is characterized by persistent fatigue that significantly impacts daily life, accompanied by more general symptoms like sore throats or headaches.

Inheritance:

The inheritance pattern for CBG deficiency is typically autosomal recessive. This means that both copies of the relevant gene within each cell must contain mutations for the condition to manifest. Individuals with only one copy of the mutated gene, known as carriers, usually do not exhibit symptoms themselves. However, some individuals carrying only one SERPINA6 gene mutation may experience symptoms like fatigue or chronic pain. Conversely, some individuals with mutations in both copies of the SERPINA6 gene may remain entirely asymptomatic. The reasons for this variability in symptom presentation among individuals with SERPINA6 mutations remain unclear.