Recurrent acral ulcerations associated with DNA methyltransferase 1-complex disorder

Bibliographic Details
Main Author: Cerejeira,Diogo
Publication Date: 2022
Other Authors: Bonito,Frederico, Ionel,Cristina, Cunha,Henriqueta, Pereira,Pedro
Format: Report
Language: eng
Source: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
Download full: http://scielo.pt/scielo.php?script=sci_arttext&pid=S2795-50012022000100071
Summary: 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:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron: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/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-28T13:21:26.092637Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse
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:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron:RCAAP
instname_str FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron_str RCAAP
institution RCAAP
reponame_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
collection Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
repository.name.fl_str_mv Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
repository.mail.fl_str_mv info@rcaap.pt
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