2011
DOI: 10.1038/ng.830
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Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

Abstract: DNA methyltransferase 1 (DNMT1) is crucial for maintenance of methylation, gene regulation and chromatin stability1-3. DNA mismatch repair, cell cycle regulation in post-mitotic neurons4,5 and neurogenesis6 are influenced by DNA methylation. Here we show mutations in DNMT1 cause both central and peripheral neurodegeneration in one form of hereditary sensory and autonomic neuropathy (HSAN1) with dementia and hearing loss7,8. Exome sequencing led to the identification of DNMT1 mutation c.A1484G (p.Tyr495Cys) in … Show more

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Cited by 351 publications
(337 citation statements)
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“…[4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19] It is estimated that more than 230 novel rare disease genes have been discovered to date using WES. 11 Several new NSHLcausative genes have also recently been revealed via WES, including GPSM2, DNMT1, BDP1, ELMOD3, TNC, GRXCR2, and ADCY1.…”
Section: Introductionmentioning
confidence: 99%
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“…[4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19] It is estimated that more than 230 novel rare disease genes have been discovered to date using WES. 11 Several new NSHLcausative genes have also recently been revealed via WES, including GPSM2, DNMT1, BDP1, ELMOD3, TNC, GRXCR2, and ADCY1.…”
Section: Introductionmentioning
confidence: 99%
“…11 Several new NSHLcausative genes have also recently been revealed via WES, including GPSM2, DNMT1, BDP1, ELMOD3, TNC, GRXCR2, and ADCY1. [12][13][14][15][16][17][18] Thus, WES is a powerful approach for investigating the genetic basis of human disease.…”
Section: Introductionmentioning
confidence: 99%
“…Some mutations in the Dnmt1 gene are linked to adult-onset neurodegenerative disorders. Dnmt1 mutations have been identified as a cause of hereditary sensory and autonomic neuropathy type 1 (HSAN1) [57]. Mutations associated with HSAN1 are in the coding sequence of dnmt1, corresponding to the nuclear localization targeting sequence and sites critical for catalytic activity and stability [57].…”
Section: Mammalian Dnmts In the Central Nervous Systemmentioning
confidence: 99%
“…Dnmt1 mutations have been identified as a cause of hereditary sensory and autonomic neuropathy type 1 (HSAN1) [57]. Mutations associated with HSAN1 are in the coding sequence of dnmt1, corresponding to the nuclear localization targeting sequence and sites critical for catalytic activity and stability [57]. Peripheral blood cells from HSAN1 cases show hypomethylation at numerous gene promoters and DNA repeat sequences [57].…”
Section: Mammalian Dnmts In the Central Nervous Systemmentioning
confidence: 99%
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