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Genetics and Evolution

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The doctor told his patient that he is suffering from a metabolic disorder caused by a mutation in the DHCR7 gene on chromosome 11. Which among the following disorders is the doctor referring to?

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A
Smith-Lemli-Opitz syndrome
💡 Explanation:

SLOS Chromosome SLOS is a metabolic disorder caused by a mutation in the DHCR7 (7-dehydrocholesterol reductase) gene on chromosome 11. This gene codes for an enzyme that is involved in the production of cholesterol. People who have SLOS are unable to make enough cholesterol to support normal growth and development.

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