RNUopathies

Variants in RNU Genes Discovered as Prevalent Causes of Rare Neurodevelopmental Disorders

Discoveries Renew Hope for Thousands of Affected Families Worldwide

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

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

  • RNU2-2 / ReNU2 syndrome, shares similar symptoms to RNU4-2, but is less prevalent with prominent epilepsy

  • RNU5B-1, established as a neurodevelopmental disorder gene

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

  • RNU12

  • RNU4ATAC

The European Society of Human Genetics 2026 Conference (ESHG 2026) was held in June 2026.

During the conference, Dr. Whiffin was awarded the prestigious Leena Peltonen Prize for Excellence in Human Genetics for her groundbreaking contributions to rare disease genetics. In her acceptance speech, she detailed that since the monumental discovery of RNU4-2 variants in 2024, a total of twelve new small nuclear RNA (snRNA / sRNA) disease-causing genes have been identified in the non-coding genome!

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