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Molecular characterization of a new CYP21A2 allele and classification of its pathogenicity

2023-06Conference object Open access
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dc.contributor.authorGomes, Susana
dc.contributor.authorSaraiva, Jorge
dc.contributor.authorGonçalves, João
dc.date.accessioned2024-02-27T17:35:55Z
dc.date.available2024-02-27T17:35:55Z
dc.date.issued2023-06
dc.descriptionAbstract publicado em: Eur J Hum Genet. 2024;32(Suppl1):1–2. https://doi.org/10.1038/s41431-023-01479-6pt_PT
dc.description.abstractBackground: The CYP21A2 gene, coding for 21-Hydroxylase (21-OH), is located on 6p21.3 within the major histocompatibility complex, and integrated in a cluster of genes (RP1, C4A, C4B, TNXB) and pseudogenes (RP2, CYP21A1P, TNXA). This genomic region is variable in size and gene copy number. Due to the high homology between genes and their pseudogenes, recombination is common, deletions, insertions and duplications are frequent. The great diversity of this cluster and rare alleles contributes to additional difficulties on molecular analysis and pathogenicity classification. Methods: The CYP21A cluster was characterized using genomic DNA obtained from four healthy brothers (parents not available). Two long-PCR products, specific for each CYP21A2 copy of a trimodular allele (with two CYP21A2 copies), and for a normal/bimodular allele present in this family, were characterized by Sanger cycling sequencing and MLPA (MRC-Holland, P050-C1 kit). Results: The molecular studies revealed that one sister, who asked for genetic counselling, has a very rare trimodular allele, with two CYP21A2 genes. One of these genes has a deletion covering exons 4 to 7 and an insertion of exons 4 to 7 of the pseudogene (CYP21A1P) which has the pathogenic variants c.518T>A, c.710T>A, c.713T>A, c.719T>A, c.844G>T and c.923dupT, all in phase. This alteration can be described as: CYP21A2ex4_7delinsCYP21A1Pex4_7. Conclusion: The developed molecular approach, which was specifically designed for this family and included segregation analysis of all brothers, allowed the characterization of a new CYP21A2 trimodular allele that, even containing six pathogenic variants, is non-pathogenic as it also has (in phase) a normal CYP21A2 copy.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/9153
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.subjectCYP21A2pt_PT
dc.subject21-Hydroxylasept_PT
dc.subjectCYP21Apt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleMolecular characterization of a new CYP21A2 allele and classification of its pathogenicitypt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceViena, Austriapt_PT
oaire.citation.title56th European Society of Human Genetics ((ESHG) Conference, 10-13 June 2023pt_PT
oaire.citation.volume32pt_PT
person.familyNameGonçalves
person.givenNameJoão
person.identifier.ciencia-id5710-1FAE-5FAB
person.identifier.orcid0000-0001-9359-8774
person.identifier.ridL-2265-2014
person.identifier.scopus-author-id55934387500
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT
relation.isAuthorOfPublication6bbd19e6-ea9c-4502-b972-ec6997e9c481
relation.isAuthorOfPublication.latestForDiscovery6bbd19e6-ea9c-4502-b972-ec6997e9c481

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