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New Genetic Mutation Identified as Cause of Intellectual Disability

Discovery in non-coding gene RNU4-2 could explain tens of thousands of cases previously undiagnosed.

The result of a DNA sequence analysis in the DNA laboratory of the Bavarian State Criminal Police Office in Bavaria, Munich, Germany, on Sept. 20, 2019.
Medical illustration of a single strand of messenger RNA in pink. The molecule is slightly twisted and extends across the width of the image. The background is blurred but is a mixture of blue, pink, purple and green colors.
Image

Overview

  • Mutations in the RNU4-2 gene disrupt RNA splicing, leading to developmental issues.
  • The condition affects up to 1 in 20,000 young people, with symptoms including seizures and motor delays.
  • The findings highlight the importance of whole-genome sequencing in uncovering genetic disorders.
  • Researchers believe the mutations are spontaneous and not inherited.
  • The study opens pathways for more accurate diagnoses and potential future treatments.