title: Novel mutations in the human CYP21 gene.
abstract: The great majority of genetic defects underlying steroid 21-hydroxylase deficiency appear to result from intergenic recombinations between the homologous CYP21 and CYP21P genes. For a minority, novel sporadic point mutations have been detected. De novo mutations in CYP21 have also been reported, but only a few studies have systematically screened their occurrence. We here describe a population-based patient sample in order to estimate the rate of single-family (i.e. sporadic) and de novo germline mutations in the human CYP21 locus. Among 76 Finnish families were observed three single-family mutations and two de novo mutations in CYP21. The rates obtained, approximately 5% and approximately 2% for novel and de novo mutations, respectively, indicate that they are not rare and that their occurrence should not be ignored in genetic diagnostics of this disorder.
authors.affiliation: Department of Tissue Typing, Finnish Red Cross Blood Transfusion Service, Kivihaantie 7, FIN-00310 Helsinki, Finland. antti.levo@helsinki.fi
authors.forename: A
authors.initials: A
authors.lastname: Levo
authors.forename: J
authors.initials: J
authors.lastname: Partanen
mesh_terms: D000312:Adrenal Hyperplasia, Congenital; D005387:Finland; D005787:Gene Frequency; D005838:Genotype; D006680:HLA Antigens / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D009154:Mutation; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: D006680:HLA Antigens; D013255:Steroid 21-Hydroxylase