Following is transmitted as autosomal dominant disorder ?
**Core Concept**
Familial hypercholesterolemia is a genetic disorder characterized by high levels of low-density lipoprotein (LDL) cholesterol, leading to premature atherosclerotic cardiovascular disease. It is caused by mutations in the LDL receptor gene (LDLR) or other related genes.
**Why the Correct Answer is Right**
The correct answer is transmitted as an autosomal dominant disorder because a single copy of the mutated gene is sufficient to cause the condition. This means that if one parent has the mutated gene, each child has a 50% chance of inheriting the mutated gene and expressing the condition. The LDL receptor plays a crucial role in removing LDL cholesterol from the bloodstream, and mutations in the LDLR gene lead to impaired receptor function, resulting in elevated LDL cholesterol levels.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is not specified, so we cannot evaluate its correctness.
**Option B:** Not applicable, as we do not have information about this option.
**Option C:** Not applicable, as we do not have information about this option.
**Option D:** Not applicable, as we do not have information about this option.
**Clinical Pearl / High-Yield Fact**
Familial hypercholesterolemia is often referred to as the "butterfly rash disease" due to the characteristic xanthomas that develop on the tendons of the hands and feet, resembling a butterfly shape.
**Correct Answer:** C. Familial hypercholesterolemia