Question:
A very tall man presents with visual problems and is found to have ectopia lentis on ophthalmological evaluation. Which gene is most likely defective in this patient?
A very tall man presents with visual problems and is found to have ectopia lentis on ophthalmological evaluation. Which gene is most likely defective in this patient?
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Tall patient with ectopia lentis = Marfan syndrome; gene = FBN1.
Updated On: May 14, 2026
- FBN1
- COL1A1
- FGFR3
- PAX6
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The Correct Option is A
Solution and Explanation
Concept:
Marfan syndrome is caused by mutation in the FBN1 gene, which codes for fibrillin-1. It is associated with tall stature, long limbs, cardiovascular abnormalities, and ectopia lentis.
Step 1: Identify the syndrome.
Tall stature with ectopia lentis strongly suggests: \[ \text{Marfan syndrome} \]
Step 2: Recall the defective gene.
Marfan syndrome is due to mutation in: \[ \text{FBN1} \]
Step 3: Select the correct option.
FBN1 encodes fibrillin-1, which is important in connective tissue structure. Therefore, the correct answer is FBN1.
Step 1: Identify the syndrome.
Tall stature with ectopia lentis strongly suggests: \[ \text{Marfan syndrome} \]
Step 2: Recall the defective gene.
Marfan syndrome is due to mutation in: \[ \text{FBN1} \]
Step 3: Select the correct option.
FBN1 encodes fibrillin-1, which is important in connective tissue structure. Therefore, the correct answer is FBN1.
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