Which syndrome is caused by an autosomal recessive mutation in the DHCR7 gene?

Smith-Lemli-Opitz Syndrome is associated with an autosomal recessive mutation in the DHCR7 gene. This gene is crucial for the last step of cholesterol biosynthesis, specifically for converting 7-dehydrocholesterol to cholesterol. The deficiency results in low levels of cholesterol and high levels of 7-dehydrocholesterol, leading to various developmental issues.

Infants with Smith-Lemli-Opitz Syndrome may present with a range of symptoms including congenital anomalies, intellectual disabilities, and characteristic physical features. The syndrome is also associated with multiple organ system involvement, affecting the central nervous system, genitourinary system, and more. Understanding the genetic basis of this condition is essential for diagnosis and management, as it highlights the importance of cholesterol in fetal development and health.

The other syndromes mentioned have different genetic causes and presentations, which do not involve the DHCR7 gene. For instance, Treacher-Collins Syndrome primarily results from mutations in the TCOF1, POLR1C, or POLR1D genes, affecting craniofacial development. Pierre Robin Sequence is not a discrete syndrome but a condition characterized by a combination of micrognathia, glossoptosis, and airway obstruction, with