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Can Epimutations be Inherited? How to Manage Patients With Imprinting-related Diseases Who Wish to Become Parents

NCT02859688 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 7

Last updated 2016-08-09

No results posted yet for this study

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

  • Epimutation

Interventions

GENETIC

pyrosequencing

GENETIC

Methylome

Sponsors & Collaborators

  • Centre Hospitalier Universitaire Dijon

    lead OTHER

Eligibility

Min Age
18 Years
Sex
MALE
Healthy Volunteers
No

Timeline & Regulatory

Start
2015-05-31
Primary Completion
2015-07-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02859688 on ClinicalTrials.gov