Which of the following is autosomal recessive?
Wait, the user's correct answer is labeled as C. So in the explanation, I need to make sure that the correct answer is C. Let me check the structure again. The core concept is autosomal recessive inheritance. The correct answer's explanation should detail why it's AR. The wrong options would be other inheritance types. For example, if the options were A: Marfan (AD), B: Hemophilia (X-linked), C: Cystic Fibrosis (AR), D: Huntington's (AD), then C is correct. I need to explain each part as per the user's instructions. Make sure each section is covered with the right details. Also, the clinical pearl should highlight key AR diseases. Let me structure this properly.
**Core Concept**
Autosomal recessive (AR) inheritance requires two pathogenic variants (homozygous) for disease manifestation. Classic examples include cystic fibrosis and sickle cell anemia. These disorders often show consanguinity and skip generations in family histories.
**Why the Correct Answer is Right**
Cystic fibrosis (CF) is caused by mutations in the **CFTR gene** on chromosome 7, encoding a chloride channel. Both copies of the gene must be defective for the disease to manifest. This AR pattern explains why carriers (heterozygotes) are asymptomatic but can pass the mutation. CF presents with pancreatic insufficiency, recurrent pulmonary infections, and elevated sweat chloride levels.
**Why Each Wrong Option is Incorrect**
**Option A:** Huntington’s disease is autosomal dominant, requiring only one mutant allele for expression.
**Option B:** Hemophilia A is X-linked recessive, affecting males predominantly due to the X-linked inheritance pattern.
**Option D:** Marfan syndrome is autosomal dominant, caused by mutations in the **FBN1** gene.
**Clinical Pearl**
Remember the "2 C’s" for autosomal recessive disorders: **both parents must carry the mutation**, and **consanguinity** increases risk. Classic AR diseases include CF, sickle cell disease, and Tay-Sachs.
**Correct Answer: C. Cystic fibrosis**