Genotype-phenotype associations in non-classical steroid 21-hydroxylase deficiency
نویسندگان
چکیده
منابع مشابه
CH-8 Phenotype in steroid 21-hydroxylase deficiency: fact or fancy?
recting the lot issues it has defined, Roche reevaluate (at a minimum) subsets of the key research sample sets to ensure that: (a) there is no need to recalculate the 99th percentile value that is the cornerstone of the Universal Definition of Myocardial Infarction, and (b) the data upon which the metrics proposed for the use of this assay are correct. Such a reevaluation should be conducted im...
متن کاملGenotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
Over the last two decades, we have extensively studied the genetics of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency (CAH) and have performed 8,290 DNA analyses of the CYP21A2 gene on members of 4,857 families at risk for CAH--the largest cohort of CAH patients reported to date. Of the families studied, 1,507 had at least one member affected with one of three known forms of...
متن کاملHeterogeneity in the gene locus for steroid 21-hydroxylase deficiency.
DNA was analysed from 33 patients with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. In each case Southern blots were prepared from a number of restriction enzyme digests and hybridised with probes for both the 21-hydroxylase and the adjacent fourth component of complement (C4). Evidence for deletion of the active 21-hydroxylase gene (CYP21B) was found in 13 cases and...
متن کاملMolecular diagnosis of Chinese patients with 21-hydroxylase deficiency and analysis of genotype–phenotype correlations
Objective The spectrum of molecular defects in Chinese patients with 21-hydroxylase deficiency (21-OHD), and genotype-phenotype relationships are unknown. Methods We screened eight patients with non-classical (NC) 21-OHD and 35 with classical 21-OHD, and detected nine known mutations. Results The most frequent mutation among the 43 21-OHD cases was p.Ile172Asn (allele frequency, 36.0%), followe...
متن کامل[Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency].
Congenital adrenal hyperplasia is a general term applied to a group of several inherited enzymatic defects of cortisol biosynthesis. The most frequent cause of this disease is by far 21-hydroxylase deficiency which is considered one of the commonest metabolic disorders. The degree to which the activity of this enzyme is diminished correlates with the severity of congenital adrenal hyperplasia a...
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ژورنال
عنوان ژورنال: European Journal of Endocrinology
سال: 2000
ISSN: 0804-4643,1479-683X
DOI: 10.1530/eje.0.1430397