SNP Shot: Genomic Insights

Dubin-Johnson syndrome is a disorder marked by jaundice, a yellow discoloration of the skin and the whites of the eyes. This jaundice generally manifests in adolescence or early adulthood. While jaundice is the primary symptom, some individuals may also experience weakness, mild stomach pain, nausea, or vomiting. A hallmark of Dubin-Johnson syndrome is the accumulation of specific deposits within the liver. These deposits usually don't hinder liver function but cause the liver to appear black in medical images.

In rare cases, newborns with Dubin-Johnson syndrome may present with jaundice shortly after birth. These infants often exhibit an enlarged liver (hepatomegaly) and a significant reduction in bile production and release (cholestasis). These liver issues typically resolve as the child grows, and they generally do not experience related health problems later in life.

Inheritance:

Dubin-Johnson syndrome follows an autosomal recessive inheritance pattern. This means that both copies of the responsible gene in each cell must have mutations for the condition to develop. Individuals with an autosomal recessive condition inherit one mutated gene copy from each parent. The parents, who each carry a single copy of the mutated gene, typically do not exhibit any signs or symptoms of the condition themselves.