Informace o publikaci
Smith-Lemli-Opitz syndrome:Molecular analysis of ten families
| Název česky | SLO syndrom-molekulárně-gentická analýza 10 rodin |
|---|---|
| Autoři | |
| Rok publikování | 2000 |
| Druh | Článek v odborném periodiku |
| Časopis / Zdroj | Journal of Inherited Metabolic Diseases |
| Fakulta / Pracoviště MU | |
| Citace | |
| www | http://www.wiley.com |
| Doi | https://doi.org/10.1023/a:1005616321794 |
| Klíčová slova | Smith Lemli Opitz syndrome |
| Popis | Smith LemliEOpitz syndrome (SLOS ; McKusick 270400) is an autosomal recessiveinherited metabolic-malformation disorder caused by de?cient activity of 7-dehydrocholesterol reductase (DHCR7, E.C. 1.3.1.21), which catalyses the ?nal stepin the cholesterol-biosynthesis pathway. The clinical picture is characterized by acombination of congenital anomalies : microcephaly, hypotonia, incomplete devel-opment of the male genitalia, polydactyly, syndactyly of toes 2 and 3, cleft palate,heart and kidney malformations, failure to thrive and severe mental and growthretardation. A decrease of plasma cholesterol and the accumula-tion of its precursor 7-dehydrocholesterol (7-DHC) is the biochemical hallmark inSLOS patients.Cloning and sequencing of DHCR7 cDNA and character-ization of the human DHCR7 gene enabled investigation ofdefects of this gene at the DNA level. Several mutations have been described. Here we report the results of molecular analysis ofthe DHCR7 gene in 10 unrelated families with Smith LemliOpitz syndrome. |