6533b82efe1ef96bd1292852
RESEARCH PRODUCT
Germline correction of an epimutation related to Silver-Russell syndrome.
Yves Le BoucVirginie CarmignacLaurence FaivreChristel Thauvin-robinetDéborah Bourc'hisPaul SagotCécile ChouxIrene NetchinePatricia FauqueYannis DuffourdCéline Brunosubject
ProbandAdultMaleGenetic counselingRussell-Silver SyndromeBiologymedicine.disease_causeGermlineEpigenesis GeneticGenomic ImprintingGene OrderGeneticsmedicineHumansExomeEpigeneticsPromoter Regions GeneticMolecular BiologyGenetics (clinical)GeneticsMutationSilver–Russell syndromeHigh-Throughput Nucleotide SequencingGeneral MedicineDNA Methylationmedicine.diseaseSilver-Russell SyndromeGerm CellsPhenotypeGene Expression RegulationGenetic LociDNA methylationCpG IslandsFemaleRNA Long Noncodingdescription
Like genetic mutations, DNA methylation anomalies or epimutations can disrupt gene expression and lead to human diseases. However, unlike genetic mutations, epimutations can in theory be reverted through developmental epigenetic reprograming, which should limit their transmission across generations. Following the request for a parental project of a patient diagnosed with Silver-Russell syndrome (SRS), and the availability of both somatic and spermatozoa DNA from the proband and his father, we had the exceptional opportunity to evaluate the question of inheritance of an epimutation. We provide here for the first time evidence for efficient reversion of a constitutive epimutation in the spermatozoa of an SRS patient, which has important implication for genetic counseling.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2015-02-04 | Human molecular genetics |