RSH/Smith-Lemli-Opitz Syndrome: A Multiple Congenital Anomaly/Mental Retardation Syndrome due to an Inborn Error of Cholesterol Biosynthesis

@article{citeulike:2937912, abstract = {The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is an autosomal recessive multiple congenital anomaly/mental retardation syndrome caused by an inborn error of cholesterol biosynthesis. The RSH/SLOS phenotypic spectrum is broad; however, typical features include microcephaly, ptosis, a small upturned nose, micrognathia, postaxial polydactaly, second and third toe syndactaly, genital anomalies, growth failure, and mental retardation. RSH/SLOS is due to a deficiency of the 3[beta]-hydroxysterol [Delta]7-reductase, which catalyzes the reduction of 7-dehydrocholesterol (7-DHC) to cholesterol. This inborn error of cholesterol biosynthesis results in elevated serum and tissue 7-DHC levels. The 3[beta]-hydroxysterol [Delta]7-reductase gene (DHCR7) maps to chromosome 11q12-13, and to date 66 different mutations of this gene have been identified in RSH/SLOS patients. Identification of the biochemical basis of RSH/SLOS has led to development of therapeutic regimens based on dietary cholesterol supplementation and has increased our understanding of the role cholesterol plays during embryonic development.}, author = {Porter, Forbes D. }, citeulike-article-id = {2937912}, doi = {http://dx.doi.org/10.1006/mgme.2000.3069}, journal = {Molecular Genetics and Metabolism}, keywords = {cholesterol, diseases}, month = {September}, number = {1-2}, pages = {163--174}, posted-at = {2008-06-27 19:44:49}, priority = {2}, title = {RSH/Smith-Lemli-Opitz Syndrome: A Multiple Congenital Anomaly/Mental Retardation Syndrome due to an Inborn Error of Cholesterol Biosynthesis}, url = {http://dx.doi.org/10.1006/mgme.2000.3069}, volume = {71}, year = {2000} }

TY - JOUR ID - citeulike:2937912 L3 - citeulike-article-id:2937912 TI - RSH/Smith-Lemli-Opitz Syndrome: A Multiple Congenital Anomaly/Mental Retardation Syndrome due to an Inborn Error of Cholesterol Biosynthesis JF - Molecular Genetics and Metabolism VL - 71 IS - 1-2 SP - 163 EP - 174 N2 - The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is an autosomal recessive multiple congenital anomaly/mental retardation syndrome caused by an inborn error of cholesterol biosynthesis. The RSH/SLOS phenotypic spectrum is broad; however, typical features include microcephaly, ptosis, a small upturned nose, micrognathia, postaxial polydactaly, second and third toe syndactaly, genital anomalies, growth failure, and mental retardation. RSH/SLOS is due to a deficiency of the 3[beta]-hydroxysterol [Delta]7-reductase, which catalyzes the reduction of 7-dehydrocholesterol (7-DHC) to cholesterol. This inborn error of cholesterol biosynthesis results in elevated serum and tissue 7-DHC levels. The 3[beta]-hydroxysterol [Delta]7-reductase gene (DHCR7) maps to chromosome 11q12-13, and to date 66 different mutations of this gene have been identified in RSH/SLOS patients. Identification of the biochemical basis of RSH/SLOS has led to development of therapeutic regimens based on dietary cholesterol supplementation and has increased our understanding of the role cholesterol plays during embryonic development. KW - cholesterol KW - diseases AU - Porter, Forbes PY - 2000/09// UR - http://dx.doi.org/10.1006/mgme.2000.3069 ER -