Step 1

Genetics 1

A 42-year-old man presents to the clinic because his wife is concerned about the coloring of his skin, stating “he looks like he just spent a week on the beach.” He reports that he was recently diagnosed with type 2 diabetes and is taking metformin. He denies having had any blood transfusions. Physical examination reveals hyperpigmentation of the skin diffusely. The sclera are noted to be yellow and there is pitting edema in the legs bilaterally. Abdominal examination reveals a distended abdomen with a fluid wave. An ultrasound of the liver is ordered and reveals the presence of cirrhosis. The patient declines a biopsy of the liver, but a blood test is ordered to evaluate for genetic conditions.

Which of the following genetic mutations will most likely be present in this patient?

  • A) ATP7B gene mutation
  • B) C282Y HFE gene on chromosome 6p
  • C) CFTR gene mutation
  • D) KRAS mutation
  • E) PiZZ genotype on chromosome 14

Authors

Dr. Ted O'Connell

Katie Carsky

Editor

Dr. Ted O'Connell

Last updated

May 10, 2022

Source

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