Epimutation
Conditions
Brief summary
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.
Interventions
GENETICpyrosequencing
GENETICMethylome
Sponsors
Centre Hospitalier Universitaire Dijon
Study design
Observational model
FAMILY_BASED
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
MALE
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Men who have been informed about the study * Patients over 18 years old * Fertile * Matched for age with Silver Russel syndrome (SRS) patients
Exclusion criteria
* Adults under guardianship * Patients without national health insurance cover * Patients with psychomotor development diseases or pulmonary, cardiac, renal or metabolic diseases (including type 1 and 2 diabetes before the pregnancy), inflammatory and systemic diseases, hypertension, neurological diseases, chronic hepatitis B or C, infection with human immunodeficiency virus (HIV).
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Analysis of levels of methylation of deoxyribonucleic acid (DNA) measured by cloning/ sequencing and/or pyrosequencing for genes susceptible to imprinting (GSI) | Through the study completion up to 1 month |
Countries
France
Outcome results
None listed