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: | , , , , |
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| Format: | Digital revista |
| Language: | English |
| Published: |
Permanyer Publications
2022
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| Online Access: | http://scielo.pt/scielo.php?script=sci_arttext&pid=S2795-50012022000100071 |
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