APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.

doi:10.1038/s41467-017-02306-5

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Article

APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.

Nature communications - 4 Jan 2018

Guéant Jean-Louis, Chéry Céline, Oussalah Abderrahim, Nadaf Javad, Coelho David, Josse Thomas, Flayac Justine, Robert Aurélie, Koscinski Isabelle, Gastin Isabelle, Filhine-Tresarrieu Pierre, Pupavac Mihaela, Brebner Alison, Watkins David, Pastinen Tomi, Montpetit Alexandre, Hariri Fadi, Tregouët David, Raby Benjamin A, Chung Wendy K, Morange Pierre-Emmanuel, Froese D Sean, Baumgartner Matthias R, Benoist Jean-François, Ficicioglu Can, Marchand Virginie, Motorin Yuri, Bonnemains Chrystèle, Feillet François, Majewski Jacek, Rosenblatt David S

Abstract excerpt

To date, epimutations reported in man have been somatic and erased in germlines. Here, we identify a cause of the autosomal recessive cblC class of inborn errors of vitamin B12 metabolism that we name "epi-cblC". The subjects are compound heterozygotes for a genetic mutation and for a promoter epimutation, detected in blood, fibroblasts, and sperm, at the MMACHC locus; 5-azacytidine restores the expression of...

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Identifiers

PMID: 29302025
DOI: 10.1038/s41467-017-02306-5
PMCID: PMC5754367

Genes

MMACHC
PRDX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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