To further delineate the physical spectrum of the mild form of Smith-Lemli-Opitz syndrome, especially with regard to genotype-phenotype correlation, we describe 5 Polish patients with mild phenotype (one with novel mutation in DHCR7 gene and four published before) and analyze 18 other cases from the literature.
DHCR7 mutation is a rapid and reliable method for prenatal diagnosis of SLOS, and provides an alternative to specialized biochemical tests for elevated 7DHC in amniotic fluid or CVS.
Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.