Smith-Lemli-Opitz Syndrome Analysis

Smith-Lemli-Opitz Syndrome
Disease/Pathology
Smith-Lemli-Opitz Syndrome is an autosomal recessive genetic disorder that disrupts cholesterol synthesis within the body due to defects in the enzyme DCHR7 or 7-dehydrocholesterol reductase. Facial features that are distinct for this syndrome include variations of a short flat nose, ears that are set low, and in some cases a cleft palate is present (Nowaczyk, 1998). SLOS has a range of phenotypes with the most common being syndactyly of the second and third toes. (Porter, F.D 2008). The presence of microcephaly is found in 80% of SLOS patients and can be accompanied by other defects of the central nervous system (Nowaczyk, 1998). Photosensitivity has consistently been found in surveys of SLOS patients. (Anstey, 2001). SLOS cases range from mild to severe, unfortunately most severe cases result in miscarriage or death shortly after birth (Steiner, 2013). In addition to physical anomalies many SLOS patients present behavioral characteristics of autism (Kelley & Hennekam, May 2000), mental …show more content…
The disruption of DCHR7 activity prematurely ends the synthesis of cholesterol by the Kandutsch-Russell pathway and the accumulation of DHC7.
How mutation leads to pathology While a mutation in this gene will significantly lower the amount of cholesterol available to the body it is still unclear on exactly how this effects development. “Due to the complexity of the different roles cholesterol plays in biological functions it is unlikely that a single pathological mechanism underlies the malformations and clinical problems seen in SLOS patients.” (Porter, F.D 2008) Although there is no single mechanism it is apparent that it is the collective stress on these functions that lead to pathology in SLOS.
Diagnosis and

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