Smith-Lemli-Opitz Syndrome [chapter]

Encyclopedic Reference of Genomics and Proteomics in Molecular Medicine  
The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and the subsequent redefinition of SLOS as an inborn error of cholesterol metabolism have led to important new treatment possibilities for aVected patients. Moreover, the recent recognition of the important role of cholesterol in vertebrate embryogenesis, especially with regard to the hedgehog embryonic signalling pathway and its
more » ... s on the expression of homeobox genes, has provided an explanation for the abnormal morphogenesis in the syndrome. The well known role of cholesterol in the formation of steroid hormones has also provided a possible explanation for the abnormal behavioural characteristics of SLOS. (J Med Genet 2000;37:321-335)
doi:10.1007/3-540-29623-9_8735 fatcat:bfswbrahovfnvj32vrl3s26l2i