Smith-Lemli-Opitz Syndrome is inherited in which manner?

Smith-Lemli-Opitz Syndrome is inherited in which manner?

• A. Autosomal dominant
• B. Recessive from one parent
• C. Recessive from both parents
• D. Sex-linked recessive

Answer: (C)

Smith-Lemli-Opitz Syndrome is caused by mutations in the DHCR7 gene, which is vital for the production of cholesterol in the body. This genetic condition follows an autosomal recessive inheritance pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to express the syndrome. For a child to be affected by Smith-Lemli-Opitz Syndrome, both parents must either be carriers of the mutation or affected themselves. If only one parent carries the mutation, the child can only inherit one copy and is considered a carrier but will not exhibit symptoms of the syndrome. Therefore, the genetic transmission directly supports the characterization of the condition as recessive, requiring contributions from both parents.

Smith-Lemli-Opitz Syndrome is caused by mutations in the DHCR7 gene, which is vital for the production of cholesterol in the body. This genetic condition follows an autosomal recessive inheritance pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to express the syndrome.

For a child to be affected by Smith-Lemli-Opitz Syndrome, both parents must either be carriers of the mutation or affected themselves. If only one parent carries the mutation, the child can only inherit one copy and is considered a carrier but will not exhibit symptoms of the syndrome. Therefore, the genetic transmission directly supports the characterization of the condition as recessive, requiring contributions from both parents.