Smith-Lemli-Opitz syndrome: deficient delta 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection.

摘要: The Smith-Lemli-Opitz syndrome (SLO) is a recently identified disorder of cholesterol biosynthesis, clinically characterized by typical facial dysmorphia including microcephaly, ptosis, cataracts, anteverted nares, low-set posteriorly rotated ears and micrognathia, multiple congenital limb organ anomalies severe mental retardation with incomplete myelination the brain peripheral nerves (Smith et al 1964). In 1993, Irons coworkers (1993) reported marked elevation 7-dehydrocholesterol in patients SLO, suggesting defect penultimate step biosynthesis (Tint 1994). This was established experimentally same group investigators, who deficient Δ 7 -reductase activity microsomes prepared from liver specimens obtained four SLO homozygotes (Shafer 1995). These experiments were followed studies cultured skin fibroblasts using radiolabelled lathosterol as more stable precursor (Honda Similar performed Lund (1996) also [ 3 H]lathosterol. this paper we describe simple method allowing direct measurement chorionic villus which now commercially available.