H. Oey and E. Whitelaw, On the meaning of the word 'epimutation, Trends Genet, vol.30, pp.519-520, 2014.

B. Horsthemke, Epimutations in human disease, Curr. Top. Microbiol. Immunol, vol.310, pp.45-59, 2006.

D. I. Martin, J. E. Cropley, and C. M. Suter, Epigenetics in disease: leader or follower?, Epigenetics, vol.6, pp.843-848, 2011.

E. Heard and R. A. Martienssen, Transgenerational epigenetic inheritance: myths and mechanisms, Cell, vol.157, pp.95-109, 2014.

M. P. Hitchins, Dominantly inherited constitutional epigenetic silencing of MLH1 in a cancer-affected family is linked to a single nucleotide variant within the 5'UTR, Cancer Cell, vol.20, pp.200-213, 2011.

D. Watkins and D. S. Rosenblatt, Inborn errors of cobalamin absorption and metabolism, Am. J. Med. Genet. C Semin. Med. Genet, vol.157, pp.33-44, 2011.

J. P. Lerner-ellis, et al Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type, Nat. Genet, vol.38, pp.93-100, 2006.

J. P. Lerner-ellis, Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations, Hum. Mutat, vol.30, pp.1072-1081, 2009.

R. Gizicki, Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type, Ophthalmology, vol.121, pp.381-386, 2014.

E. P. Consortium, An integrated encyclopedia of DNA elements in the human genome, Nature, vol.489, pp.57-74, 2012.

M. J. Mcgeachie, The metabolomics of asthma control: a promising link between genetics and disease, Immun. Inflamm. Dis, vol.3, pp.224-238, 2015.

K. J. Dick, DNA methylation and body-mass index: a genome-wide analysis, Lancet, vol.383, pp.1990-1998, 2014.

T. G. Jenkins, Intra-sample heterogeneity of sperm DNA methylation, Mol. Hum. Reprod, vol.21, pp.313-319, 2015.

H. J. Lee, T. A. Hore, and W. Reik, Reprogramming the methylome: erasing memory and creating diversity, Cell Stem Cell, vol.14, pp.710-719, 2014.
DOI : 10.1016/j.stem.2014.05.008

URL : https://doi.org/10.1016/j.stem.2014.05.008

J. Michaud, HCFC1 is a common component of active human CpG-island promoters and coincides with ZNF143, THAP11, YY1, and GABP transcription factor occupancy, Genome Res, vol.23, pp.907-916, 2013.

K. Siklenka, Disruption of histone methylation in developing sperm impairs offspring health transgenerationally, Science, vol.350, p.2006, 2015.

A. D. Loewy, Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence, Mol. Genet. Metab, vol.96, pp.261-267, 2009.

H. Zhou, Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies, Am. J. Hum. Genet, vol.79, pp.859-868, 2006.

V. Pelechano and L. M. Steinmetz, Gene regulation by antisense transcription, Nat. Rev. Genet, vol.14, pp.880-893, 2013.
DOI : 10.1038/nrg3594

V. B. O'leary, PARTICLE, a triplex-forming long ncRNA, regulates locusspecific methylation in response to low-dose irradiation, Cell Rep, vol.11, pp.474-485, 2015.

F. Loos, A. Loda, L. Van-wijk, J. A. Grootegoed, and J. Gribnau, Chromatinmediated reversible silencing of sense-antisense gene pairs in embryonic stem cells is consolidated upon differentiation, Mol. Cell. Biol, vol.35, pp.2436-2447, 2015.

N. J. Krogan, Methylation of histone H3 by Set2 in Saccharomyces cerevisiae is linked to transcriptional elongation by RNA polymerase II, Mol. Cell. Biol, vol.23, pp.4207-4218, 2003.

T. Baubec, Genomic profiling of DNA methyltransferases reveals a role for DNMT3B in genic methylation, Nature, vol.520, pp.243-247, 2015.

P. D. Ladd, An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals, Hum. Mol. Genet, vol.16, pp.3174-3187, 2007.

V. M. Barbour, Alpha-thalassemia resulting from a negative chromosomal position effect, Blood, vol.96, pp.800-807, 2000.

C. Tufarelli, Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease, Nat. Genet, vol.34, pp.157-165, 2003.

M. J. Ligtenberg, Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1, Nat. Genet, vol.41, pp.112-117, 2009.

G. Leyens, B. Knoops, and I. Donnay, Expression of peroxiredoxins in bovine oocytes and embryos produced in vitro, Mol. Reprod. Dev, vol.69, pp.243-251, 2004.

M. Morselli, In vivo targeting of de novo DNA methylation by histone modifications in yeast and mouse, Elife, vol.4, p.6205, 2015.

O. V. Grinchuk, P. Jenjaroenpun, Y. L. Orlov, J. Zhou, and V. A. Kuznetsov, Integrative analysis of the human cis-antisense gene pairs, miRNAs and their transcription regulation patterns, Nucleic Acids Res, vol.38, pp.534-547, 2010.

M. Gardiner-garden and M. Frommer, CpG islands in vertebrate genomes, J. Mol. Biol, vol.196, pp.261-282, 1987.

B. Rhead, The UCSC Genome Browser database: update 2010, Nucleic Acids Res, vol.38, pp.613-619, 2010.

L. Witkowski, Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type, Nat. Genet, vol.46, pp.438-443, 2014.

J. Schwartzentruber, Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma, Nature, vol.482, pp.226-231, 2012.

Y. Zhang, Model-based analysis of ChIP-Seq (MACS)

, Genome Biol, vol.9, p.137, 2008.

S. Heinz, Simple combinations of lineage-determining transcription factors prime cis-regulatory elements required for macrophage and B cell identities, Mol. Cell, vol.38, pp.576-589, 2010.

D. L. Remington, Structure of linkage disequilibrium and phenotypic associations in the maize genome, Proc. Natl Acad. Sci. USA, vol.98, pp.11479-11484, 2001.

N. Patterson, A. L. Price, and D. Reich, Population structure and eigenanalysis, PLoS Genet, vol.2, p.190, 2006.

A. L. Price, Principal components analysis corrects for stratification in genome-wide association studies, Nat. Genet, vol.38, pp.904-909, 2006.

, valuable contribution and help in the collection of data and samples used to study the entire family, and the scientists of the McGill University and Genome Quebec and the Genomic Platform of the FR3209 CNRS-Inserm, University of Lorraine, for expert advice and performing high throughput sequencing