Plain Language Literature Summaries

There is always research ongoing focused on the HNRNP-RNDDs! The scientists and clinicians use a lot of jargon -so we try to break it down into terms we all understand here!

This is the first paper to describe HNRNPC-RNDD. The authors identified 13 individuals with changes in the HNRNPC gene. These individuals have heterozygous variants, meaning they have one damaged copy of the gene and one normal copy. Interestingly, five individuals had the same variant (p.Arg284_Asp292del), the remaining individuals had variants that were unique to them.

They find that individuals with HNRNPC-RNDD have:

· global developmental delay

· intellectual disability

· behavioral differences

· mildly distinctive facial features

They use patient-derived fibroblasts (skin cells) and induced pluripotent stem cells (iPSCs) that have a loss-of-function variant (individual 8 in the paper) to look at molecular changes. The levels of hnRNPC protein are decreased. They also used available data to see that there are changes in gene expression of neurodevelopment-related genes.

Finally, using mouse neurons, they found that altered levels (too much or too little) of HNRNPC affects neuronal migration (getting to where they need to go) and neuronal morphology (structural changes) -both important in neurodevelopment.

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