Report of a father with congenital bilateral absence of the vas deferens fathering a child with beare–stevenson syndrome

dc.contributor.authorDantas Junior, Jose Hipolito
dc.contributor.authorFerreira, Leonardo Capistrano
dc.date.accessioned2023-08-01T20:12:11Z
dc.date.available2023-08-01T20:12:11Z
dc.date.issued2020
dc.description.resumoBackground: 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.citationDANTAS 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.doihttps://doi.org/10.3389/fgene.2020.00104
dc.identifier.urihttps://repositorio.ufrn.br/handle/123456789/54328
dc.languageenpt_BR
dc.publisherFrontiers In Geneticspt_BR
dc.rightsAttribution 3.0 Brazil*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/br/*
dc.subjectbeare–stevensonpt_BR
dc.subjectcraniosynostosispt_BR
dc.subjectpaternal agept_BR
dc.subjectFGFR2pt_BR
dc.titleReport of a father with congenital bilateral absence of the vas deferens fathering a child with beare–stevenson syndromept_BR
dc.typearticlept_BR

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