Recurrent acral ulcerations associated with DNA methyltransferase 1-complex disorder

Detalhes bibliográficos
Autor(a) principal: Cerejeira,Diogo
Data de Publicação: 2022
Outros Autores: Bonito,Frederico, Ionel,Cristina, Cunha,Henriqueta, Pereira,Pedro
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://scielo.pt/scielo.php?script=sci_arttext&pid=S2795-50012022000100071
Resumo: Abstract DNA methyltransferase 1, encoded by DNMT gene, is a crucial DNA methyltransferase with essential roles in transcription regulation, gene imprinting, and cell differentiation. Dysfunction of this group of enzymes can lead to a variety of neurologically predominant clinical symptoms, including a stereotypic triad of sensory predominant neuropathy, sensorineural hearing loss, and cognitive decline. Herein, we report the case of a Portuguese patient who presented with recurrent acral ulcerations due to hypoalgesia and hypoesthesia, secondary to a novel heterozygous mutation [c.1718T>G (p.Val573Gly)] in DNA methyltransferase 1 gene.
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spelling Recurrent acral ulcerations associated with DNA methyltransferase 1-complex disorderDNA (Cytosine-5-)—Methyltransferase 1/geneticsSkin ulcerEtiologyAbstract DNA methyltransferase 1, encoded by DNMT gene, is a crucial DNA methyltransferase with essential roles in transcription regulation, gene imprinting, and cell differentiation. Dysfunction of this group of enzymes can lead to a variety of neurologically predominant clinical symptoms, including a stereotypic triad of sensory predominant neuropathy, sensorineural hearing loss, and cognitive decline. Herein, we report the case of a Portuguese patient who presented with recurrent acral ulcerations due to hypoalgesia and hypoesthesia, secondary to a novel heterozygous mutation [c.1718T>G (p.Val573Gly)] in DNA methyltransferase 1 gene.Permanyer Publications2022-03-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/reporttext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S2795-50012022000100071Portuguese Journal of Dermatology and Venereology v.80 n.1 2022reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPenghttp://scielo.pt/scielo.php?script=sci_arttext&pid=S2795-50012022000100071Cerejeira,DiogoBonito,FredericoIonel,CristinaCunha,HenriquetaPereira,Pedroinfo:eu-repo/semantics/openAccess2024-02-08T23:00:30Zoai:scielo:S2795-50012022000100071Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T02:36:53.810185Repositório 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 Recurrent acral ulcerations associated with DNA methyltransferase 1-complex disorder
title Recurrent acral ulcerations associated with DNA methyltransferase 1-complex disorder
spellingShingle Recurrent acral ulcerations associated with DNA methyltransferase 1-complex disorder
Cerejeira,Diogo
DNA (Cytosine-5-)—Methyltransferase 1/genetics
Skin ulcer
Etiology
title_short Recurrent acral ulcerations associated with DNA methyltransferase 1-complex disorder
title_full Recurrent acral ulcerations associated with DNA methyltransferase 1-complex disorder
title_fullStr Recurrent acral ulcerations associated with DNA methyltransferase 1-complex disorder
title_full_unstemmed Recurrent acral ulcerations associated with DNA methyltransferase 1-complex disorder
title_sort Recurrent acral ulcerations associated with DNA methyltransferase 1-complex disorder
author Cerejeira,Diogo
author_facet Cerejeira,Diogo
Bonito,Frederico
Ionel,Cristina
Cunha,Henriqueta
Pereira,Pedro
author_role author
author2 Bonito,Frederico
Ionel,Cristina
Cunha,Henriqueta
Pereira,Pedro
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Cerejeira,Diogo
Bonito,Frederico
Ionel,Cristina
Cunha,Henriqueta
Pereira,Pedro
dc.subject.por.fl_str_mv DNA (Cytosine-5-)—Methyltransferase 1/genetics
Skin ulcer
Etiology
topic DNA (Cytosine-5-)—Methyltransferase 1/genetics
Skin ulcer
Etiology
description Abstract DNA methyltransferase 1, encoded by DNMT gene, is a crucial DNA methyltransferase with essential roles in transcription regulation, gene imprinting, and cell differentiation. Dysfunction of this group of enzymes can lead to a variety of neurologically predominant clinical symptoms, including a stereotypic triad of sensory predominant neuropathy, sensorineural hearing loss, and cognitive decline. Herein, we report the case of a Portuguese patient who presented with recurrent acral ulcerations due to hypoalgesia and hypoesthesia, secondary to a novel heterozygous mutation [c.1718T>G (p.Val573Gly)] in DNA methyltransferase 1 gene.
publishDate 2022
dc.date.none.fl_str_mv 2022-03-01
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
format report
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://scielo.pt/scielo.php?script=sci_arttext&pid=S2795-50012022000100071
url http://scielo.pt/scielo.php?script=sci_arttext&pid=S2795-50012022000100071
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv http://scielo.pt/scielo.php?script=sci_arttext&pid=S2795-50012022000100071
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Permanyer Publications
publisher.none.fl_str_mv Permanyer Publications
dc.source.none.fl_str_mv Portuguese Journal of Dermatology and Venereology v.80 n.1 2022
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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