Report of a father with congenital bilateral absence of the vas deferens fathering a child with beare–stevenson syndrome
dc.contributor.author | Dantas Junior, Jose Hipolito | |
dc.contributor.author | Ferreira, Leonardo Capistrano | |
dc.date.accessioned | 2023-08-01T20:12:11Z | |
dc.date.available | 2023-08-01T20:12:11Z | |
dc.date.issued | 2020 | |
dc.description.resumo | Background: Apert, Pfeiffer, and Crouzon syndromes are autosomal dominant diseases characterized by craniosynostosis. They are paternal age effect disorders. The association between paternal age and Beare–Stevenson syndrome (BSS), a very rare and severe craniosynostosis, is uncertain. Gain-of-function mutations in FGFR2 become progressively enriched in testes as men age and were shown to cause these syndromes. Case report: Here, we describe a child affected with BSS, whose father was 36 years old and had congenital bilateral absence of the vas deferens (CBAVD). The child was heterozygous for the pathogenic FGFR2 variant c.1124A > G p.Tyr375Cys. By reviewing the literature, we found that BSS fathers are older than BSS mothers (mean age in years: 39 ± 10 vs 30 ± 6, p = 0.006). Male age greater than 34 years and CBAVD are both factors associated with poor spermogram parameters, which may represent an additional selective pressure to sperm carrying FGFR2 gain-of-function mutations. Conclusion: These findings are consistent with the hypothesis that BSS is a paternalorigin genetic disorder. Further experimental studies would be needed to confirm this hypothesis. | pt_BR |
dc.identifier.citation | DANTAS JUNIOR, José Hipólito; FERREIRA, Leonardo C. Report of a Father With Congenital Bilateral Absence of the Vas Deferens Fathering a Child With Beare–Stevenson Syndrome. Frontiers In Genetics, [S.L.], v. 11, p. 1, 25 fev. 2020. Frontiers Media SA. http://dx.doi.org/10.3389/fgene.2020.00104. Disponível em: https://www.frontiersin.org/articles/10.3389/fgene.2020.00104/full. Acesso em: 26 jul. 2023. | pt_BR |
dc.identifier.doi | https://doi.org/10.3389/fgene.2020.00104 | |
dc.identifier.uri | https://repositorio.ufrn.br/handle/123456789/54328 | |
dc.language | en | pt_BR |
dc.publisher | Frontiers In Genetics | pt_BR |
dc.rights | Attribution 3.0 Brazil | * |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/br/ | * |
dc.subject | beare–stevenson | pt_BR |
dc.subject | craniosynostosis | pt_BR |
dc.subject | paternal age | pt_BR |
dc.subject | FGFR2 | pt_BR |
dc.title | Report of a father with congenital bilateral absence of the vas deferens fathering a child with beare–stevenson syndrome | pt_BR |
dc.type | article | pt_BR |
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