Mutation in Marfan’s syndrome is?
**Core Concept**
Marfan's syndrome is a genetic disorder primarily affecting the connective tissue in the body. It is caused by mutations in the gene encoding fibrillin-1 (FBN1), a protein crucial for the formation of elastic fibers found in connective tissue.
**Why the Correct Answer is Right**
The mutation in Marfan's syndrome leads to the production of abnormal fibrillin-1 protein, which disrupts the normal structure and function of connective tissue. This results in various clinical manifestations, including tall stature, joint hypermobility, and cardiovascular complications such as aortic root dilatation. The FBN1 gene is located on chromosome 15 and codes for the fibrillin-1 protein, which is essential for the formation of elastic fibers in connective tissue.
**Why Each Wrong Option is Incorrect**
* **Option A:** This option is not relevant to Marfan's syndrome. The correct answer is related to a specific gene mutation, not a general term.
* **Option B:** This option is incorrect because the mutation in Marfan's syndrome is not related to the gene encoding collagen. Collagen is another type of protein found in connective tissue, but it is not the primary protein affected in Marfan's syndrome.
* **Option C:** This option is not a correct answer because the mutation in Marfan's syndrome is not related to a specific enzyme involved in protein synthesis. The FBN1 gene is a structural gene that codes for the fibrillin-1 protein.
**Clinical Pearl / High-Yield Fact**
Marfan's syndrome is a classic example of a genetic disorder that affects multiple organ systems due to the widespread distribution of connective tissue in the body. It is essential for clinicians to recognize the characteristic features of Marfan's syndrome, including tall stature, joint hypermobility, and cardiovascular complications, to make an early diagnosis and provide appropriate management.
**Correct Answer:** D. FBN1 gene mutation.