| http://purl.uniprot.org/citations/37324257 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/37324257 | http://www.w3.org/2000/01/rdf-schema#comment | "ObjectiveThe study aimed to identify the pathogenic status of p.Gln319Ter (NM_000500.7: c.955C>T) variant when inherited in a single CYP21A2 gene (bimodular RCCX haplotype) and to discriminate between a non-causing congenital adrenal hyperplasia (CAH) allele when inherited in a duplicated and functional CYP21A2 gene context (trimodular RCCX haplotype).Methods38 females and 8 males with hyperandrogenemia, previously screened by sequencing and identified as carriers for the pathogenic p.Gln319Ter, were herein tested by multiplex ligation-dependent probe amplification (MLPA) and a real-time PCR Copy number Variation (CNV) assay.ResultsBoth MLPA and real-time PCR CNV analyses confirmed a bimodular and pathogenic RCCX haplotype with a single CYP21A2 in 19/46 (41.30%) p.Gln319Ter carriers and who in parallel all shared elevated 17-OHP levels. The remaining 27 individuals that also carried the p.Gln319Ter exhibited low 17-OHP levels as a result of their carriership of a duplicated CYP21A2 with a trimodular RCCX haplotype. Interestingly, all of these individuals also carried in linkage disequilibrium with p.Gln319Ter two single nucleotide polymorphisms, the c.293-79G>A (rs114414746) in intron 2 and the c.*12C>T (rs150697472) in the 3'-UTR. Therefore, these variants can be used to distinguish between pathogenic and non-pathogenic genomic contexts of the c.955T (p.Gln319) in the genetic diagnosis of congenital adrenal hyperplasia (CAH).ConclusionThe employed methodologies identified a considerable number of individuals with non-pathogenic p.Gln319Ter from the individuals that typically carry the pathogenic p.Gln319Ter in a single CYP21A2. Therefore, it is extremely important the detection of such haplotypes for the prenatal diagnosis, treatment and genetic counseling in patients with CAH."xsd:string |
| http://purl.uniprot.org/citations/37324257 | http://purl.org/dc/terms/identifier | "doi:10.3389/fendo.2023.1156616"xsd:string |
| http://purl.uniprot.org/citations/37324257 | http://purl.uniprot.org/core/author | "Fanis P."xsd:string |
| http://purl.uniprot.org/citations/37324257 | http://purl.uniprot.org/core/author | "Tanteles G.A."xsd:string |
| http://purl.uniprot.org/citations/37324257 | http://purl.uniprot.org/core/author | "Phylactou L.A."xsd:string |
| http://purl.uniprot.org/citations/37324257 | http://purl.uniprot.org/core/author | "Skordis N."xsd:string |
| http://purl.uniprot.org/citations/37324257 | http://purl.uniprot.org/core/author | "Neocleous V."xsd:string |
| http://purl.uniprot.org/citations/37324257 | http://purl.uniprot.org/core/author | "Toumba M."xsd:string |
| http://purl.uniprot.org/citations/37324257 | http://purl.uniprot.org/core/author | "Picolos M."xsd:string |
| http://purl.uniprot.org/citations/37324257 | http://purl.uniprot.org/core/date | "2023"xsd:gYear |
| http://purl.uniprot.org/citations/37324257 | http://purl.uniprot.org/core/name | "Front Endocrinol (Lausanne)"xsd:string |
| http://purl.uniprot.org/citations/37324257 | http://purl.uniprot.org/core/pages | "1156616"xsd:string |
| http://purl.uniprot.org/citations/37324257 | http://purl.uniprot.org/core/title | "The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes."xsd:string |
| http://purl.uniprot.org/citations/37324257 | http://purl.uniprot.org/core/volume | "14"xsd:string |
| http://purl.uniprot.org/citations/37324257 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/37324257 |
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