All of the following are autosomal dominant disorder except?
**Core Concept**
Autosomal dominant disorders are a group of genetic conditions caused by mutations in a single allele of a gene. This means that a single copy of the mutated gene is sufficient to cause the condition, and individuals with an autosomal dominant disorder have a 50% chance of passing it to each offspring. Autosomal dominant disorders occur due to mutations in various genes, often affecting different organ systems.
**Why the Correct Answer is Right**
Duchenne muscular dystrophy is an X-linked recessive disorder, not an autosomal dominant disorder. It is caused by a mutation in the dystrophin gene located on the X chromosome. The dystrophin gene is responsible for encoding the dystrophin protein, which is crucial for muscle function. In DMD, the dystrophin protein is absent or defective, leading to progressive muscle degeneration and weakness. The correct diagnosis of DMD as an X-linked recessive disorder is essential for genetic counseling and management.
**Why Each Wrong Option is Incorrect**
**Option A:** Von Hippel-Lindau disease is an autosomal dominant disorder characterized by the development of benign tumors and cysts in multiple organs, including the kidneys, pancreas, and adrenal glands. It is caused by mutations in the VHL gene.
**Option B:** Achondroplasia is the most common form of short-limbed dwarfism and is an autosomal dominant disorder caused by mutations in the FGFR3 gene. It affects the growth plates in bones, leading to short stature and characteristic physical features.
**Option D:** Multiple endocrine neoplasia (MEN) syndromes are a group of autosomal dominant disorders characterized by the development of tumors in multiple endocrine glands, including the parathyroid glands, adrenal glands, and pancreas.
**Clinical Pearl / High-Yield Fact**
It's essential to remember that X-linked recessive disorders, such as DMD, predominantly affect males, who have only one X chromosome. Females can be carriers of the mutated gene but usually do not express the condition, unless they are homozygous for the mutation.
**β Correct Answer: C. Duchenner muscular dystrophy**