RNU4-2 Emerges as a Leading Cause of Rare Neurodevelopmental Disorders – Renewing Hope for Families
ReNU syndrome is a spliceosomal disorder with a defined mutational hotspot and growing global dataset. Currently ~250 confirmed cases worldwide (12-14 in Italy), though the true number of undiagnosed cases is estimated to be much higher: pathogenic variants are concentrated in just 13 positions of our 3 billion base-pair genome!
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Learn about how ReNU occurs, typical features and how development is affected.
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International Gallery
Discover the extraordinary stories of children and families living with ReNU Syndrome around the world.
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RNU4-2 World Map
RNU4-2 families mapped in 38+ countries. Add yourself to the map and help strengthen research.
See MapStories from ReNU Families
Real stories from around the world, from the ReNU Syndrome United community
A story of strength and joy from Great Britain.
Read MoreAshley, age 8, loves water, music, and joyful moments.
Read MoreEliot's family from France, united in hope.
Read MoreIsla from Australia, the joy of every day.
Read MoreNoah from Canada, an inspiring story.
Read MoreAntonin from France, the strength of a united family.
Read MoreThe International ReNU Network
National partner associations worldwide