Recurrent acral ulcerations associated with DNA methyltransferase 1-complex disorder

Recurrent acral ulcerations associated with DNA methyltransferase 1-complex disorder

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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Main Authors: Cerejeira,Diogo, Bonito,Frederico, Ionel,Cristina, Cunha,Henriqueta, Pereira,Pedro
Format: Digital revista
Language:English
Published: Permanyer Publications 2022
Online Access:http://scielo.pt/scielo.php?script=sci_arttext&pid=S2795-50012022000100071
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spelling oai:scielo:S2795-500120220001000712024-02-06Recurrent acral ulcerations associated with DNA methyltransferase 1-complex disorderCerejeira,DiogoBonito,FredericoIonel,CristinaCunha,HenriquetaPereira,Pedro DNA (Cytosine-5-)—Methyltransferase 1/genetics Skin ulcer Etiology 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.info:eu-repo/semantics/openAccessPermanyer PublicationsPortuguese Journal of Dermatology and Venereology v.80 n.1 20222022-03-01info:eu-repo/semantics/reporttext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S2795-50012022000100071en10.24875/pjd.m22000014
institution SCIELO
collection OJS
country Portugal
countrycode PT
component Revista
access En linea
databasecode rev-scielo-pt
tag revista
region Europa del Sur
libraryname SciELO
language English
format Digital
author Cerejeira,Diogo
Bonito,Frederico
Ionel,Cristina
Cunha,Henriqueta
Pereira,Pedro
spellingShingle Cerejeira,Diogo
Bonito,Frederico
Ionel,Cristina
Cunha,Henriqueta
Pereira,Pedro
Recurrent acral ulcerations associated with DNA methyltransferase 1-complex disorder
author_facet Cerejeira,Diogo
Bonito,Frederico
Ionel,Cristina
Cunha,Henriqueta
Pereira,Pedro
author_sort Cerejeira,Diogo
title Recurrent acral ulcerations associated with DNA methyltransferase 1-complex disorder
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
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.
publisher Permanyer Publications
publishDate 2022
url http://scielo.pt/scielo.php?script=sci_arttext&pid=S2795-50012022000100071
work_keys_str_mv AT cerejeiradiogo recurrentacralulcerationsassociatedwithdnamethyltransferase1complexdisorder
AT bonitofrederico recurrentacralulcerationsassociatedwithdnamethyltransferase1complexdisorder
AT ionelcristina recurrentacralulcerationsassociatedwithdnamethyltransferase1complexdisorder
AT cunhahenriqueta recurrentacralulcerationsassociatedwithdnamethyltransferase1complexdisorder
AT pereirapedro recurrentacralulcerationsassociatedwithdnamethyltransferase1complexdisorder
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