Smith-Lemli-Opitz (SLOS)

Smith-Lemli-Opitz Syndrome (SLOS) is a cholesterol metabolic disorder caused by deficiency of 7-dehydrocholesterol (7-DHC) reductase enzyme. Patients show prenatal and postnatal growth retardation, microcephaly, mental retardation, multiple major and minor anomaly symptoms. These anomalies include malfunctioning like distinctive facial dysmorphism, cleft palate, cardiac anomalies and postaxial polydactyly. The disease is autosomal recessive and brought about by mutations in DHCR7 gene.

"The results suggest a helical structure which must be very closely packed containing probably 2, 3 or 4 coaxial nucleic acid chains per helical unit and having the phosphate groups near the outside."

Rosalind Elsie Franklin