Article
Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7.
Molecular genetics and metabolism - 1 Jul 2005
Cardoso M L, Balreira A, Martins E, Nunes L, Cabral A, Marques M, Lima M Reis, Marques J S, Medeira A, Cordeiro I, Pedro S, Mota M C, Dionisi-Vici C, Santorelli F M, Jakobs C, Clayton P T, Vilarinho L
Abstract excerpt
Smith-Lemli-Opitz syndrome (SLO) is an autosomal recessive disorder characterised by craniofacial dysmorphism, mental retardation, multiple congenital anomalies, and increased levels of 7-dehydrocholesterol (7-DHC) in body tissues and fluids. SLO is caused by mutations in the DHCR7 gene which encodes 7-dehydrocholesterol reductase, the last enzyme of cholesterol biosynthesis pathway. In our investigation, we...
Topics
- Child
- Child, Preschool
- Cholesterol
- Chromatography, High Pressure Liquid
- DNA Mutational Analysis
- Female
- Genotype
- Humans
- Infant
- Infant, Newborn