Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12.

doi:10.1186/s13148-022-01271-1

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Article

Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12.

Clinical epigenetics - 19 Apr 2022

Oussalah Abderrahim, Siblini Youssef, Hergalant Sébastien, Chéry Céline, Rouyer Pierre, Cavicchi Catia, Guerrini Renzo, Morange Pierre-Emmanuel, Trégouët David, Pupavac Mihaela, Watkins David, Pastinen Tomi, Chung Wendy K, Ficicioglu Can, Feillet François, Froese D Sean, Baumgartner Matthias R, Benoist Jean-François, Majewski Jacek, Morrone Amelia, Rosenblatt David S, Guéant Jean-Louis

Abstract excerpt

BACKGROUND: epi-cblC is a recently discovered inherited disorder of intracellular vitamin B12 metabolism associating hematological, neurological, and cardiometabolic outcomes. It is produced by an epimutation at the promoter common to CCDC163P and MMACHC, which results from an aberrant antisense transcription due to splicing mutations in the antisense PRDX1 gene neighboring MMACHC. We studied whether the aberrant...

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PMID: 35440018
DOI: 10.1186/s13148-022-01271-1
PMCID: PMC9020039

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