Matches in SemOpenAlex for { <https://semopenalex.org/work/W4248171562> ?p ?o ?g. }
Showing items 1 to 76 of
76
with 100 items per page.
- W4248171562 endingPage "1065" @default.
- W4248171562 startingPage "1059" @default.
- W4248171562 abstract "Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders. CAH is most often caused by deficiency of steroid 21-hydroxylase. The frequency of CYP21-inactivating mutations and the genotype-phenotype relationship were characterized in 155 well defined unrelated CAH patients. We were able to elucidate 306 of 310 disease-causing alleles (diagnostic sensitivity, 98.7%). The most frequent mutation was the intron 2 splice site mutation (30.3%), followed by gene deletions (20.3%), the I172N mutation (19.7%) and large gene conversions (7.1%). Five point mutations were detected that have not been described in other CAH cohorts. Genotypes were categorized in 4 mutation groups (null, A, B, and C) according to their predicted functional consequences and compared to the clinical phenotype. The positive predictive value for null mutations (ppvnull) was 100%, as all patients with these mutations had a salt-wasting phenotype. In mutation group A (intron 2 splice site mutation in homozygous or heterozygous form with a null mutation), the ppvA to manifest with salt-wasting CAH was 90%. In group B predicted to result in simple virilizing CAH (I172N in homozygous or compound heterozygous form with a more severe mutation), ppvB was 74%. In group C (P30L, V281L, P453S in homozygous or compound heterozygous form with a more severe mutation), ppvC was 64.7% to exhibit the nonclassical form of CAH, but 90% when excluding the P30L mutation. Thus, in general, a good genotype-phenotype relationship is shown in patients with either the severest or the mildest mutations. A considerable degree of divergence is observed within mutation groups of intermediate severity. As yet undefined factors modifying 21-hydroxylase gene expression and steroid hormone action are likely to account for these differences in phenotypic expression." @default.
- W4248171562 created "2022-05-12" @default.
- W4248171562 creator A5006439423 @default.
- W4248171562 date "2000-03-01" @default.
- W4248171562 modified "2023-10-04" @default.
- W4248171562 title "Predicting Phenotype in Steroid 21-Hydroxylase Deficiency? Comprehensive Genotyping in 155 Unrelated, Well Defined Patients from Southern Germany" @default.
- W4248171562 doi "https://doi.org/10.1210/jc.85.3.1059" @default.
- W4248171562 hasPublicationYear "2000" @default.
- W4248171562 type Work @default.
- W4248171562 citedByCount "52" @default.
- W4248171562 countsByYear W42481715622012 @default.
- W4248171562 countsByYear W42481715622013 @default.
- W4248171562 countsByYear W42481715622014 @default.
- W4248171562 countsByYear W42481715622016 @default.
- W4248171562 countsByYear W42481715622017 @default.
- W4248171562 crossrefType "journal-article" @default.
- W4248171562 hasAuthorship W4248171562A5006439423 @default.
- W4248171562 hasBestOaLocation W42481715621 @default.
- W4248171562 hasConcept C104317684 @default.
- W4248171562 hasConcept C12125453 @default.
- W4248171562 hasConcept C126322002 @default.
- W4248171562 hasConcept C127716648 @default.
- W4248171562 hasConcept C134018914 @default.
- W4248171562 hasConcept C135763542 @default.
- W4248171562 hasConcept C176944494 @default.
- W4248171562 hasConcept C180754005 @default.
- W4248171562 hasConcept C200844832 @default.
- W4248171562 hasConcept C2777767042 @default.
- W4248171562 hasConcept C2780321258 @default.
- W4248171562 hasConcept C501734568 @default.
- W4248171562 hasConcept C54355233 @default.
- W4248171562 hasConcept C54458228 @default.
- W4248171562 hasConcept C57708383 @default.
- W4248171562 hasConcept C62257209 @default.
- W4248171562 hasConcept C67705224 @default.
- W4248171562 hasConcept C71924100 @default.
- W4248171562 hasConcept C86803240 @default.
- W4248171562 hasConceptScore W4248171562C104317684 @default.
- W4248171562 hasConceptScore W4248171562C12125453 @default.
- W4248171562 hasConceptScore W4248171562C126322002 @default.
- W4248171562 hasConceptScore W4248171562C127716648 @default.
- W4248171562 hasConceptScore W4248171562C134018914 @default.
- W4248171562 hasConceptScore W4248171562C135763542 @default.
- W4248171562 hasConceptScore W4248171562C176944494 @default.
- W4248171562 hasConceptScore W4248171562C180754005 @default.
- W4248171562 hasConceptScore W4248171562C200844832 @default.
- W4248171562 hasConceptScore W4248171562C2777767042 @default.
- W4248171562 hasConceptScore W4248171562C2780321258 @default.
- W4248171562 hasConceptScore W4248171562C501734568 @default.
- W4248171562 hasConceptScore W4248171562C54355233 @default.
- W4248171562 hasConceptScore W4248171562C54458228 @default.
- W4248171562 hasConceptScore W4248171562C57708383 @default.
- W4248171562 hasConceptScore W4248171562C62257209 @default.
- W4248171562 hasConceptScore W4248171562C67705224 @default.
- W4248171562 hasConceptScore W4248171562C71924100 @default.
- W4248171562 hasConceptScore W4248171562C86803240 @default.
- W4248171562 hasIssue "3" @default.
- W4248171562 hasLocation W42481715621 @default.
- W4248171562 hasOpenAccess W4248171562 @default.
- W4248171562 hasPrimaryLocation W42481715621 @default.
- W4248171562 hasRelatedWork W1980640153 @default.
- W4248171562 hasRelatedWork W2013166796 @default.
- W4248171562 hasRelatedWork W2027439373 @default.
- W4248171562 hasRelatedWork W2044992835 @default.
- W4248171562 hasRelatedWork W2079193288 @default.
- W4248171562 hasRelatedWork W2096126850 @default.
- W4248171562 hasRelatedWork W2147323493 @default.
- W4248171562 hasRelatedWork W2292247690 @default.
- W4248171562 hasRelatedWork W2315245248 @default.
- W4248171562 hasRelatedWork W2408379723 @default.
- W4248171562 hasVolume "85" @default.
- W4248171562 isParatext "false" @default.
- W4248171562 isRetracted "false" @default.
- W4248171562 workType "article" @default.