Salt-wasting congenital adrenal hyperplasia: Detection of mutations in CYP21B gene in a Chilean population

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dc.contributor.authorFardella, CE
dc.contributor.authorPoggi, H
dc.contributor.authorPineda, P
dc.contributor.authorSoto, J
dc.contributor.authorTorrealba, I
dc.contributor.authorCattani, A
dc.contributor.authorOestreicher, E
dc.contributor.authorForadori, A
dc.date.accessioned2024-01-10T13:17:24Z
dc.date.available2024-01-10T13:17:24Z
dc.date.issued1998
dc.description.abstractThe steroid 21-hydroxylase deficiency (21OHD) is the most frequent cause of congenital adrenal hyperplasia. We have characterized the disease-causing mutations in the 21-hydroxylase genes of 63 patients with salt-wasting congenital adrenal hyperplasia from a Chilean population of Hispanic origin, a group that has been scarcely evaluated. Using allele-specific PCR, lesions were identified in 97 chromosomes out of 126 tested (77%). The most frequent findings were the gene deletion or large gene conversion (LGC) = 22.9%, I2 splice = 19%, R357W = 12.7%, and Q319X = 10.5%. We did not find alleles with the mutation F308insT and we found three alleles with the cluster E6. The frequency of the point mutation R357W was at least two times more frequent than the one found in Caucasians populations, but similar to that communicated in Asian populations; this finding may be explained by the Asian ancestry of our South-Amerindian population. The frequency of Q319X was also high, similar only to those patients studied in Italy and in a neighboring Argentinian population. In summary, this is a genetic characterization of 21OHD made in an almost pure Hispanic population in Latin America. The high frequency of deletion of CYP21B gene, I2 splice, R357W, and Q319X mutations probably reflects the European-Caucasian-Spanish influence of the conquerors, mixed with Amerindians of Asian ancestry and modulated by other European immigrations.
dc.fechaingreso.objetodigital2024-05-15
dc.format.extent4 páginas
dc.fuente.origenWOS
dc.identifier.doi10.1210/jc.83.9.3357
dc.identifier.eissn1945-7197
dc.identifier.issn0021-972X
dc.identifier.pubmedidMEDLINE:9745454
dc.identifier.urihttps://doi.org/10.1210/jc.83.9.3357
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/78660
dc.identifier.wosidWOS:000075840700060
dc.information.autorucMedicina;Fardella C;S/I;66235
dc.information.autorucMedicina;Foradori A;S/I;47695
dc.issue.numero9
dc.language.isoen
dc.nota.accesocontenido parcial
dc.pagina.final3360
dc.pagina.inicio3357
dc.publisherENDOCRINE SOC
dc.revistaJOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
dc.rightsacceso restringido
dc.subjectSTEROID 21-HYDROXYLASE DEFICIENCY
dc.subjectPOLYMERASE-CHAIN-REACTION
dc.subjectPRENATAL-DIAGNOSIS
dc.subjectASSOCIATION
dc.subjectPSEUDOGENE
dc.subjectGENOTYPE
dc.subjectALLELES
dc.subjectPATIENT
dc.subject.ods05 Gender Equality
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa05 Igualdad de género
dc.subject.odspa03 Salud y bienestar
dc.titleSalt-wasting congenital adrenal hyperplasia: Detection of mutations in CYP21B gene in a Chilean population
dc.typeartículo
dc.volumen83
sipa.codpersvinculados66235
sipa.codpersvinculados47695
sipa.indexWOS
sipa.indexScopus
sipa.trazabilidadCarga SIPA;09-01-2024
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