Trials / Completed
CompletedNCT02859688
Can Epimutations be Inherited? How to Manage Patients With Imprinting-related Diseases Who Wish to Become Parents
- Status
- Completed
- Phase
- —
- Study type
- Observational
- Enrollment
- 7 (actual)
- Sponsor
- Centre Hospitalier Universitaire Dijon · Academic / Other
- Sex
- Male
- Age
- 18 Years
- Healthy volunteers
- Not accepted
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.
Conditions
Interventions
| Type | Name | Description |
|---|---|---|
| GENETIC | pyrosequencing | |
| GENETIC | Methylome |
Timeline
- Start date
- 2015-05-01
- Primary completion
- 2015-07-01
- First posted
- 2016-08-09
- Last updated
- 2016-08-09
Locations
1 site across 1 country: France
Source: ClinicalTrials.gov record NCT02859688. Inclusion in this directory is not an endorsement.