ReNUopathies

Variants in RNU Discovered as Prevalent Causes of Rare Neurodevelopmental Disorders

Discovery Renews Hope for Affected Families Worldwide

RNU-related disorders may include, but are not limited to:

  • RNU4-2 / ReNU syndrome, which is a neurodevelopmental disorder caused by mutations in the RNU4-2 gene

  • RNU2-2 / ReNU2 syndrome, which shares similar symptoms but is less prevalent with prominent epilepsy

  • RNU5B-1, established as a neurodevelopmental disorder gene

  • RNU5A-1 is considered a “strong candidate” for being a neurodevelopmental disorder gene as well

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