A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome

Detalhes bibliográficos
Autor(a) principal: Ganapathi, Mythily
Data de Publicação: 2022
Outros Autores: Buchovecky, Christie M., Cristo, Fernando, Ahimaz, Priyanka, Ruzal-Shapiro, Carrie, Wou, Karen, Inácio, José M., Iglesias, Alejandro, Belo, José A., Jobanputra, Vaidehi
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10362/147243
Resumo: Funding J.A.B. acknowledges funding from iNOVA4Health-UID/Multi/04462/2013, a program financially supported by Fundação para a Ciência e Tecnologia/Ministério da Educação e Ciência through national funds and cofunded by Fundo Europeu de Desenvolvimento Regional (FEDER) under the PT2020 Partnership Agreement.
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spelling A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndromeabdominal situs inversusMedicine(all)Funding J.A.B. acknowledges funding from iNOVA4Health-UID/Multi/04462/2013, a program financially supported by Fundação para a Ciência e Tecnologia/Ministério da Educação e Ciência through national funds and cofunded by Fundo Europeu de Desenvolvimento Regional (FEDER) under the PT2020 Partnership Agreement.The majority of heterotaxy cases do not obtain a molecular diagnosis, although pathogenic variants in more than 50 genes are known to cause heterotaxy. A heterozygous missense variant in DAND5, a nodal inhibitor, which functions in early development for establishment of right-left patterning, has been implicated in heterotaxy. Recently, the first case was reported of a DAND5 biallelic loss-of-function (LoF) variant in an individual with heterotaxy. Here, we describe a second unrelated individual with heterotaxy syndrome and a homozygous frameshift variant in DAND5 (NM_152654.2:c.197del [p.Leu66ArgfsTer22]). Using an in vitro assay, we demonstrate that the DAND5 c.197del variant is unable to inhibit nodal signaling when compared with the wild-type expression construct. This work strengthens the genetic and functional evidence for biallelic LoF variants in DAND5 causing an autosomal recessive heterotaxy syndrome.NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)RUNGanapathi, MythilyBuchovecky, Christie M.Cristo, FernandoAhimaz, PriyankaRuzal-Shapiro, CarrieWou, KarenInácio, José M.Iglesias, AlejandroBelo, José A.Jobanputra, Vaidehi2023-01-09T22:16:49Z2022-12-012022-12-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10362/147243engPURE: 49699328https://doi.org/10.1101/mcs.a006248info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-03-11T05:28:17Zoai:run.unl.pt:10362/147243Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:52:50.267759Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome
title A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome
spellingShingle A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome
Ganapathi, Mythily
abdominal situs inversus
Medicine(all)
title_short A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome
title_full A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome
title_fullStr A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome
title_full_unstemmed A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome
title_sort A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome
author Ganapathi, Mythily
author_facet Ganapathi, Mythily
Buchovecky, Christie M.
Cristo, Fernando
Ahimaz, Priyanka
Ruzal-Shapiro, Carrie
Wou, Karen
Inácio, José M.
Iglesias, Alejandro
Belo, José A.
Jobanputra, Vaidehi
author_role author
author2 Buchovecky, Christie M.
Cristo, Fernando
Ahimaz, Priyanka
Ruzal-Shapiro, Carrie
Wou, Karen
Inácio, José M.
Iglesias, Alejandro
Belo, José A.
Jobanputra, Vaidehi
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
RUN
dc.contributor.author.fl_str_mv Ganapathi, Mythily
Buchovecky, Christie M.
Cristo, Fernando
Ahimaz, Priyanka
Ruzal-Shapiro, Carrie
Wou, Karen
Inácio, José M.
Iglesias, Alejandro
Belo, José A.
Jobanputra, Vaidehi
dc.subject.por.fl_str_mv abdominal situs inversus
Medicine(all)
topic abdominal situs inversus
Medicine(all)
description Funding J.A.B. acknowledges funding from iNOVA4Health-UID/Multi/04462/2013, a program financially supported by Fundação para a Ciência e Tecnologia/Ministério da Educação e Ciência through national funds and cofunded by Fundo Europeu de Desenvolvimento Regional (FEDER) under the PT2020 Partnership Agreement.
publishDate 2022
dc.date.none.fl_str_mv 2022-12-01
2022-12-01T00:00:00Z
2023-01-09T22:16:49Z
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.uri.fl_str_mv http://hdl.handle.net/10362/147243
url http://hdl.handle.net/10362/147243
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv PURE: 49699328
https://doi.org/10.1101/mcs.a006248
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv
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