SNP Shot: Genomic Insights

Rotor syndrome is a benign disorder marked by hyperbilirubinemia, meaning there are higher than normal levels of bilirubin in the blood. Bilirubin is a byproduct of red blood cell breakdown and has a yellowish-orange color. When bilirubin accumulates, it can lead to jaundice, a yellowing of the skin and/or the whites of the eyes. Jaundice in individuals with Rotor syndrome typically appears early in life, either shortly after birth or during childhood, and may be intermittent. Often, the only noticeable sign is yellowing of the whites of the eyes (conjunctival icterus).

The body contains two types of bilirubin: unconjugated (toxic) and conjugated (non-toxic). In Rotor syndrome, both types of bilirubin accumulate in the bloodstream, although conjugated bilirubin is the predominant form.

Inheritance:

Rotor syndrome follows an autosomal recessive inheritance pattern. This means that both copies of a specific gene in each cell must carry a mutation for the condition to manifest. Specifically, an individual with Rotor syndrome must have mutations in both copies of the SLCO1B1 gene and both copies of the SLCO1B3 gene. The parents of an affected individual each carry one mutated copy of both the SLCO1B1 and SLCO1B3 genes, but they typically do not exhibit any symptoms of the condition themselves.