Fiche publication
Date publication
juillet 2021
Journal
Clinical epigenetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr GUEANT Jean-Louis
,
Dr OUSSALAH Abderrahim
Tous les auteurs :
Cavicchi C, Oussalah A, Falliano S, Ferri L, Gozzini A, Gasperini S, Motta S, Rigoldi M, Parenti G, Tummolo A, Meli C, Menni F, Furlan F, Daniotti M, Malvagia S, la Marca G, Chery C, Morange PE, Tregouet D, Donati MA, Guerrini R, Guéant JL, Morrone A
Lien Pubmed
Résumé
The role of epigenetics in inborn errors of metabolism (IEMs) is poorly investigated. Epigenetic changes can contribute to clinical heterogeneity of affected patients but could also be underestimated determining factors in the occurrence of IEMs. An epigenetic cause of IEMs has been recently described for the autosomal recessive methylmalonic aciduria and homocystinuria, cblC type (cblC disease), and it has been named epi-cblC. Epi-cblC has been reported in association with compound heterozygosity for a genetic variant and an epimutation at the MMACHC locus, which is secondary to a splicing variant (c.515-1G > T or c.515-2A > T) at the adjacent PRDX1 gene. Both these variants cause aberrant antisense transcription and cis-hypermethylation of the MMACHC gene promotor with subsequent silencing. Until now, only nine epi-cblC patients have been reported.
Mots clés
CpG island, Epi-cblC, Expanded newborn screening (NBS), Methylmalonic aciduria and homocystinuria, Promoter hypermethylation, Secondary epimutation, cblC disease, cblC type
Référence
Clin Epigenetics. 2021 Jul 2;13(1):137
