Refining the phenotype associated with biallelic DNAJC21 mutations

Detalhes bibliográficos
Autor(a) principal: D'Amours, G.
Data de Publicação: 2018
Outros Autores: Lopes, Fátima Daniela Teixeira, Gauthier, J., Saillour, V., Nassif, C., Wynn, R., Alos, N., Leblanc, T., Capri, Y., Nizard, S., Lemyre, E., Michaud, J. L., Pelletier, V-A, Pastore, Y. D., Soucy, J-F
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/1822/57827
Resumo: Accepted manuscript
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spelling Refining the phenotype associated with biallelic DNAJC21 mutationsBMFS3bone marrow failure syndromefounder effectgenomic instabilitygenotype-phenotypemanagementnatural historyribosometelomereCiências Médicas::Medicina BásicaScience & TechnologyAccepted manuscriptInherited bone marrow failure syndromes (IBMFS) are caused by mutations in genes involved in genomic stability. Although they may be recognized by the association of typical clinical features, variable penetrance and expressivity are common, and clinical diagnosis is often challenging. DNAJC21, which is involved in ribosome biogenesis, was recently linked to bone marrow failure. However, the specific phenotype and natural history remain to be defined. We correlate molecular data, phenotype, and clinical history of 5 unreported affected children and all individuals reported in the literature. All patients present features consistent with IBMFS: bone marrow failure, growth retardation, failure to thrive, developmental delay, recurrent infections, and skin, teeth or hair abnormalities. Additional features present in some individuals include retinal abnormalities, pancreatic insufficiency, liver cirrhosis, skeletal abnormalities, congenital hip dysplasia, joint hypermobility, and cryptorchidism. We suggest that DNAJC21-related diseases constitute a distinct IBMFS, with features overlapping Shwachman-Diamond syndrome and Dyskeratosis congenita, and additional characteristics that are specific to DNAJC21 mutations. The full phenotypic spectrum, natural history, and optimal management will require more reports. Considering the aplastic anemia, the possible increased risk for leukemia, and the multisystemic features, we provide a checklist for clinical evaluation at diagnosis and regular follow-up.FCT—Fundação para a Ciência e a Tecnologia (SFRH/BD/84650/2010)info:eu-repo/semantics/publishedVersionWileyUniversidade do MinhoD'Amours, G.Lopes, Fátima Daniela TeixeiraGauthier, J.Saillour, V.Nassif, C.Wynn, R.Alos, N.Leblanc, T.Capri, Y.Nizard, S.Lemyre, E.Michaud, J. L.Pelletier, V-APastore, Y. D.Soucy, J-F2018-082018-08-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/1822/57827engD'Amours, G., Lopes, F., Gauthier, J., et. al.(2018). Refining the phenotype associated with biallelic DNAJC21 mutations. Clinical Genetics0009-91631399-000410.1111/cge.1337029700810https://onlinelibrary.wiley.com/doi/full/10.1111/cge.13370info: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:RCAAP2023-07-21T12:09:01Zoai:repositorium.sdum.uminho.pt:1822/57827Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T19:00:21.225150Repositório 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 Refining the phenotype associated with biallelic DNAJC21 mutations
title Refining the phenotype associated with biallelic DNAJC21 mutations
spellingShingle Refining the phenotype associated with biallelic DNAJC21 mutations
D'Amours, G.
BMFS3
bone marrow failure syndrome
founder effect
genomic instability
genotype-phenotype
management
natural history
ribosome
telomere
Ciências Médicas::Medicina Básica
Science & Technology
title_short Refining the phenotype associated with biallelic DNAJC21 mutations
title_full Refining the phenotype associated with biallelic DNAJC21 mutations
title_fullStr Refining the phenotype associated with biallelic DNAJC21 mutations
title_full_unstemmed Refining the phenotype associated with biallelic DNAJC21 mutations
title_sort Refining the phenotype associated with biallelic DNAJC21 mutations
author D'Amours, G.
author_facet D'Amours, G.
Lopes, Fátima Daniela Teixeira
Gauthier, J.
Saillour, V.
Nassif, C.
Wynn, R.
Alos, N.
Leblanc, T.
Capri, Y.
Nizard, S.
Lemyre, E.
Michaud, J. L.
Pelletier, V-A
Pastore, Y. D.
Soucy, J-F
author_role author
author2 Lopes, Fátima Daniela Teixeira
Gauthier, J.
Saillour, V.
Nassif, C.
Wynn, R.
Alos, N.
Leblanc, T.
Capri, Y.
Nizard, S.
Lemyre, E.
Michaud, J. L.
Pelletier, V-A
Pastore, Y. D.
Soucy, J-F
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Universidade do Minho
dc.contributor.author.fl_str_mv D'Amours, G.
Lopes, Fátima Daniela Teixeira
Gauthier, J.
Saillour, V.
Nassif, C.
Wynn, R.
Alos, N.
Leblanc, T.
Capri, Y.
Nizard, S.
Lemyre, E.
Michaud, J. L.
Pelletier, V-A
Pastore, Y. D.
Soucy, J-F
dc.subject.por.fl_str_mv BMFS3
bone marrow failure syndrome
founder effect
genomic instability
genotype-phenotype
management
natural history
ribosome
telomere
Ciências Médicas::Medicina Básica
Science & Technology
topic BMFS3
bone marrow failure syndrome
founder effect
genomic instability
genotype-phenotype
management
natural history
ribosome
telomere
Ciências Médicas::Medicina Básica
Science & Technology
description Accepted manuscript
publishDate 2018
dc.date.none.fl_str_mv 2018-08
2018-08-01T00:00:00Z
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/1822/57827
url http://hdl.handle.net/1822/57827
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv D'Amours, G., Lopes, F., Gauthier, J., et. al.(2018). Refining the phenotype associated with biallelic DNAJC21 mutations. Clinical Genetics
0009-9163
1399-0004
10.1111/cge.13370
29700810
https://onlinelibrary.wiley.com/doi/full/10.1111/cge.13370
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.publisher.none.fl_str_mv Wiley
publisher.none.fl_str_mv Wiley
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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