Report of a father with congenital bilateral absence of the vas deferens fathering a child with beare–stevenson syndrome
Autor(a) principal: | |
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Data de Publicação: | 2020 |
Outros Autores: | |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFRN |
Texto Completo: | https://repositorio.ufrn.br/handle/123456789/54328 https://doi.org/10.3389/fgene.2020.00104 |
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. |
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Dantas Junior, Jose HipolitoFerreira, Leonardo Capistrano2023-08-01T20:12:11Z2023-08-01T20:12:11Z2020DANTAS 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.https://repositorio.ufrn.br/handle/123456789/54328https://doi.org/10.3389/fgene.2020.00104Frontiers In GeneticsAttribution 3.0 Brazilhttp://creativecommons.org/licenses/by/3.0/br/info:eu-repo/semantics/openAccessbeare–stevensoncraniosynostosispaternal ageFGFR2Report of a father with congenital bilateral absence of the vas deferens fathering a child with beare–stevenson syndromeinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleBackground: 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.engreponame:Repositório Institucional da UFRNinstname:Universidade Federal do Rio Grande do Norte (UFRN)instacron:UFRNORIGINALReportFatherCongenital_DantasJr_2020.pdfReportFatherCongenital_DantasJr_2020.pdfapplication/pdf501216https://repositorio.ufrn.br/bitstream/123456789/54328/1/ReportFatherCongenital_DantasJr_2020.pdf36fe307281c7430e8e2004cc08158da7MD51CC-LICENSElicense_rdflicense_rdfapplication/rdf+xml; charset=utf-8914https://repositorio.ufrn.br/bitstream/123456789/54328/2/license_rdf4d2950bda3d176f570a9f8b328dfbbefMD52LICENSElicense.txtlicense.txttext/plain; charset=utf-81484https://repositorio.ufrn.br/bitstream/123456789/54328/3/license.txte9597aa2854d128fd968be5edc8a28d9MD53123456789/543282023-08-01 17:13:02.424oai:https://repositorio.ufrn.br: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Repositório de PublicaçõesPUBhttp://repositorio.ufrn.br/oai/opendoar:2023-08-01T20:13:02Repositório Institucional da UFRN - Universidade Federal do Rio Grande do Norte (UFRN)false |
dc.title.pt_BR.fl_str_mv |
Report of a father with congenital bilateral absence of the vas deferens fathering a child with beare–stevenson syndrome |
title |
Report of a father with congenital bilateral absence of the vas deferens fathering a child with beare–stevenson syndrome |
spellingShingle |
Report of a father with congenital bilateral absence of the vas deferens fathering a child with beare–stevenson syndrome Dantas Junior, Jose Hipolito beare–stevenson craniosynostosis paternal age FGFR2 |
title_short |
Report of a father with congenital bilateral absence of the vas deferens fathering a child with beare–stevenson syndrome |
title_full |
Report of a father with congenital bilateral absence of the vas deferens fathering a child with beare–stevenson syndrome |
title_fullStr |
Report of a father with congenital bilateral absence of the vas deferens fathering a child with beare–stevenson syndrome |
title_full_unstemmed |
Report of a father with congenital bilateral absence of the vas deferens fathering a child with beare–stevenson syndrome |
title_sort |
Report of a father with congenital bilateral absence of the vas deferens fathering a child with beare–stevenson syndrome |
author |
Dantas Junior, Jose Hipolito |
author_facet |
Dantas Junior, Jose Hipolito Ferreira, Leonardo Capistrano |
author_role |
author |
author2 |
Ferreira, Leonardo Capistrano |
author2_role |
author |
dc.contributor.author.fl_str_mv |
Dantas Junior, Jose Hipolito Ferreira, Leonardo Capistrano |
dc.subject.por.fl_str_mv |
beare–stevenson craniosynostosis paternal age FGFR2 |
topic |
beare–stevenson craniosynostosis paternal age FGFR2 |
description |
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. |
publishDate |
2020 |
dc.date.issued.fl_str_mv |
2020 |
dc.date.accessioned.fl_str_mv |
2023-08-01T20:12:11Z |
dc.date.available.fl_str_mv |
2023-08-01T20:12:11Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.citation.fl_str_mv |
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. |
dc.identifier.uri.fl_str_mv |
https://repositorio.ufrn.br/handle/123456789/54328 |
dc.identifier.doi.none.fl_str_mv |
https://doi.org/10.3389/fgene.2020.00104 |
identifier_str_mv |
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. |
url |
https://repositorio.ufrn.br/handle/123456789/54328 https://doi.org/10.3389/fgene.2020.00104 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
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Attribution 3.0 Brazil http://creativecommons.org/licenses/by/3.0/br/ info:eu-repo/semantics/openAccess |
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Attribution 3.0 Brazil http://creativecommons.org/licenses/by/3.0/br/ |
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openAccess |
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Frontiers In Genetics |
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Frontiers In Genetics |
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