A 10-year-old boy is brought to the emergency department for new swelling in his right leg. He has a history of lens dislocation and intellectual disability. Physical examination demonstrates moderate, pitting edema from his right calf to his right thigh and a normal left lower extremity. In addition, the patient has a caved-in appearing chest wall. He has no family members with similar conditions. Ultrasound reveals a deep venous thrombosis in his right femoral vein. Further genetic testing reveals a single missense mutation in the gene coding for cystathionine beta-synthase enzyme. Which of the following is the most likely explanation for this patient's genetic defect affecting multiple tissues?

Question

A 10-year-old boy is brought to the emergency department for new swelling in his right leg.  He has a history of lens dislocation and intellectual disability.  Physical examination demonstrates moderate, pitting edema from his right calf to his right thigh and a normal left lower extremity.  In addition, the patient has a caved-in appearing chest wall.  He has no family members with similar conditions.  Ultrasound reveals a deep venous thrombosis in his right femoral vein.  Further genetic testing reveals a single missense mutation in the gene coding for cystathionine beta-synthase enzyme.  Which of the following is the most likely explanation for this patient's genetic defect affecting multiple tissues?

Quizplus · Accepted Answer

Eductional Objective: Pleiotropy describes instances where multiple phenotypic manifestations result from a single genetic mutation.  Most syndromic genetic illnesses exhibit pleiotropy.

A 10-Year-Old Boy Is Brought to the Emergency Department for New