Sperm DNA study could reveal hidden recurrence risks for rare developmental disorders

NCT ID NCT04564235

First seen Feb 06, 2026 · Last updated May 14, 2026 · Updated 15 times

Summary

This study looked at 5 families where a child has a developmental disorder with no known cause. Researchers analyzed the child's and parents' DNA to find new mutations unique to the child, then checked if those mutations were also present in the father's sperm. The goal was to better understand the risk of these mutations happening again in future children.

Disclaimer Read more

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

Get updates

Get notified about this study

Sign up to get updates when this study changes or when new studies for DEVELOPMENTAL DISORDERS are added.

Our safety recommendation!

By submitting, you agree to our Terms of use

Contacts and locations

Locations

  • Rouen University Hospital

    Rouen, France

Conditions

Explore the condition pages connected to this study.