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CYP21A2 gene duplication with a severe pathogenic variant is a benign allele that does not confirm clinical suspicions of 21-hydroxylase deficiency

2018-05-11Conference object Restricted access
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dc.contributor.authorGomes, Susana
dc.contributor.authorSilva, Júlia
dc.contributor.authorPereira-Caetano, Iris
dc.contributor.authorGonçalves, João
dc.date.accessioned2019-02-25T15:04:14Z
dc.date.available2019-02-25T15:04:14Z
dc.date.issued2018-05-11
dc.description.abstractIntroduction: Congenital Adrenal Hyperplasia (CAH), one the most common autosomal recessive disorders, is regularly managed during genetic counselling (GC). The coding gene (CYP21A2) for 21-hydroxylase (21-OH), is located (in cis) with its pseudogene (CYP21A1P) in the RCCX cluster (6p21.3) and, the most common structure of this cluster comprises a single copy of each one. However, genotypes associated with CYP21A2 duplications can be detected in individuals during familial and/or pre-conceptional studies. In this duplicated alleles, the severe variant c.955C>T p.(Glu319*) is frequently detected, but is usually present in the proximal CYP21A2 copy. This means, that even in the presence of a severe variant, its allele is not pathogenic. Therefore, the aim of this work is to emphasize the importance of a better strategy of molecular analysis and an accurate interpretation of its results, in order to establish a correct genotyping of family members and partners, and provide a more reliable genetic counselling.pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/5944
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.subjectCYP21A2pt_PT
dc.subjectCongenital Adrenal Hyperplasiapt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleCYP21A2 gene duplication with a severe pathogenic variant is a benign allele that does not confirm clinical suspicions of 21-hydroxylase deficiencypt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlacePorto, Portugalpt_PT
oaire.citation.titleXLVII Conferências Genéticas Doutor Jacinto de Magalhães – A Genética na Endocrinologia e no Metabolismo, 11 maio 2018pt_PT
rcaap.rightsrestrictedAccesspt_PT
rcaap.typeconferenceObjectpt_PT

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