Warning: Undefined variable $zfal in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Deprecated: str_replace(): Passing null to parameter #3 ($subject) of type array|string is deprecated in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 530
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 531
English Wikipedia
Nephropedia Template TP (
Twit Text
DeepDyve Pubget Overpricing |
lüll Smith-Lemli-Opitz syndrome and the DHCR7 gene Jira PE; Waterham HR; Wanders RJ; Smeitink JA; Sengers RC; Wevers RAAnn Hum Genet 2003[May]; 67 (Pt 3): 269-80Smith-Lemli-Opitz syndrome, a severe developmental disorder associated with multiple congenital anomalies, is caused by a defect of cholesterol biosynthesis. Low cholesterol and high concentrations of its direct precursor, 7-dehydrocholesterol, in plasma and tissues are the diagnostic biochemical hallmarks of the syndrome. The plasma sterol concentrations correlate with severity and disease outcome. Mutations in the DHCR7 gene lead to deficient activity of 7-dehydrocholesterol reductase (DHCR7), the final enzyme of the cholesterol biosynthetic pathway. The human DHCR7 gene is localised on chromosome 11q13 and its structure has been characterized. Ninety-one different mutations in the DHCR7 gene have been published to date. This paper is a review of the clinical, biochemical and molecular genetic aspects.|*Smith-Lemli-Opitz Syndrome/diagnosis/epidemiology/genetics/metabolism[MESH]|Cholesterol/*biosynthesis[MESH]|Chromosomes, Human, Pair 11[MESH]|Humans[MESH]|Mutation[MESH]|Oxidoreductases Acting on CH-CH Group Donors/*genetics[MESH]|Polymorphism, Genetic[MESH] |