title: Mutations of the CYP21 gene in nonclassical steroid 21-hydroxylase deficiency in Japan.
abstract: To determine whether nonclassical steroid 21-hydroxylase deficiency in Japan has the same molecular basis as in western countries, we have characterized the mutations of the CYP21 gene in 7 Japanese patients with nonclassical (NC) steroid 21-hydroxylase deficiency. In the Japanese NC cases the P30L was present in one allele in 5 of the 7 patients and on both alleles in one patient. By contrast, the V281L mutation, which was present in about 60% of NC cases in western countries, was not identified in any patient. Among our 7 cases, 4 were detected through neonatal mass screening by a mild increase in serum 17-hydroxyprogesterone (without any symptoms of CAH) at birth, but the 2 cases who were diagnosed as adults were born before nationwide neonatal screening was instituted, so that the Japanese neonatal screening program does detect some cases of NC steroid 21-hydroxylase deficiency. We suggest that P30L mutation is more frequent in Japanese NC CAH than V281L and that the frequency of the mutations causing NC steroid 21-hydroxylase deficiency in Japan might be different from that in western countries.
authors.affiliation: Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892-1862, USA.
authors.forename: T
authors.initials: T
authors.lastname: Tajima
authors.forename: K
authors.initials: K
authors.lastname: Fujieda
authors.forename: J
authors.initials: J
authors.lastname: Nakae
authors.forename: A
authors.initials: A
authors.lastname: Mikami
authors.forename: G B
authors.initials: GB
authors.lastname: Cutler
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D000328:Adult; D044466:Asian People / Q000235:genetics; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007223:Infant; D007564:Japan; D008297:Male; D009154:Mutation; D017422:Sequence Analysis, DNA; D013255:Steroid 21-Hydroxylase / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: D013255:Steroid 21-Hydroxylase