Epimutation Clinical Trial
Official title:
Can Epimutations be Inherited? How to Manage Patients With Imprinting-related Diseases Who Wish to Become Parents
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 re-programing, 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.
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Observational Model: Family-Based, Time Perspective: Prospective