Search results for "Smith-Lemli-Opitz Syndrome"
showing 4 items of 4 documents
Oral manifestations of Smith-Lemli-Opitz syndrome: a paediatric case report.
2009
ABSTRACT. Background The Smith-Lemli-Opitz Syndrome (SLOS) is an autosomal recessive genetic disorder, characterised by multiple congenital malformations, dysmorphic facial features and mental retardation. SLOS is caused by a genetically inherited deficiency of the enzyme 7-dehydrocholesterol Δ7reductase (7-DHC reductase), the catalyst involved in the final step of cholesterol biosynthesis, with the consequence of an increased serum levels of 7-DHC and generalised cholesterol deficiency. Case Report A 5-year-old female child was referred to the Department of Paediatric Dentistry of the University of Palermo for caries, gingivitis and malocclusion. The medical history revealed the diagnosis …
A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome
2005
Introduction: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis, resulting from deficient 7-dehydrocholesterol reductase (3β-hydroxysterol Δ7-reductase) activity, the enzyme responsible for conversion of 7-dehydrocholesterol to cholesterol. SLOS is most common among people of European descent, with a reported incidence of 1 per 20 000–60 000 newborns, depending on the diagnostic criteria and the reference population. More than 80 different mutations have been identified in several hundred patients. In Italy, SLOS appears to be a rare condition, probably because of underdiagnosis. Method: We analyzed by direct sequencing the 7-dehydrocholesterol…
The ins and outs of cholesterol in the vertebrate retina
2010
Thematic Review Series: Lipids and Lipid Metabolism in the Eye; International audience; The vertebrate retina has multiple demands for utilization of cholesterol and must meet those demands either by synthesizing its own supply of cholesterol or by importing cholesterol from extraretinal sources, or both. Unlike the blood-brain barrier, the blood-retina barrier allows uptake of cholesterol from the circulation via a lipoprotein-based/receptor-mediated mechanism. Under normal conditions, cholesterol homeostasis is tightly regulated; also, cholesterol exists in the neural retina overwhelmingly in unesterified form, and sterol intermediates are present in minimal to negligible quantities. Howe…
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations
2004
Contains fulltext : 48815.pdf (Publisher’s version ) (Closed access) Opitz syndrome (OS; MIM 145410 and MIM 300000) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal (LTE) abnormalities, imperforate anus, developmental delay, and cardiac defects. The X-linked form (XLOS) is caused by mutations in the MID1 gene, which encodes a microtubule-associated RBCC protein. In this study, phenotypic manifestations of patients with and without MID1 mutations were compared to determine genotype-phenotype correlations. We detected 10 novel mutations, 5 in familial cases, 2 in sporadic cases, and 3 in families for whom it …