Mr. Wayne is a 38-year-old man with a significant family history of elevated cho

Question

Mr. Wayne is a 38-year-old man with a significant family history of elevated cholesterol levels. His father died at age 42 from a massive heart attack secondary to elevated cholesterol and triglycerides, and two of his older siblings are currently taking medications to lower their cholesterol levels. Mr. Wayne makes an appointment to discuss his risk for hypercholesterolemia.The nurse recognizes that Mr. Wayne is at risk for familial hypercholesterolemia because this is an autosomal dominant inherited condition (Learning objective 2).
a. Describe the pattern of autosomal dominant inheritance.
b. Mr. Wayne asks what chance his children have of developing familial hypercholesterolemia. How should the nurse respond?
c. Explain the phenomenon of penetrance observed in autosomal dominant inheritance.

Explanation / Answer

a. As, the name is indicating that autosomal disorder, this disorder is present on the X chromosome, other than the sex chromosome. Also, the gene mutated in this disorder is dominant too, only one mutated gene is required to cause the disorder. In each pregnancy, there is 50% chance the offspring will be having the disease. Offspring that are affected will be having one parent carrying disease allele, until new mutation has taken place. Number of affected males should be equal to number of affected females. Father can transmit the disease to the son.

b. The nurse should tell Mr. Wayne that children have a 50% chance of getting the disease as this is autosomal dominant disorder.

c. Reduced penetrance or incomplete penetrance is the seen in the autosomal disorder because as all the off springs will not have the mutated allele.

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