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The HNRNPs and neurodevelopmental disorders
1HNRNP Family Foundation, Seattle, WA, USA.
Current Opinion in Genetics & Development
|July 1, 2025
Summary
The HNRNP gene family is linked to numerous neurodevelopmental disorders. This review summarizes over 1000 cases, detailing HNRNP-related neurodevelopmental disorders (HNRNP-RNDDs) and informing future therapies.
Area of Science:
- Genetics and Molecular Biology
- Neuroscience
- Developmental Biology
Background:
- The HNRNP gene family is implicated in neurodegenerative disorders and cancer.
- Recent research links HNRNP genes to neurodevelopmental disorders.
- Nine HNRNP-related neurodevelopmental disorders (HNRNP-RNDDs) are established, with more under investigation.
Purpose of the Study:
- To review the phenotypic spectrum of HNRNP-RNDDs.
- To consolidate findings from over 1000 individuals across literature and patient databases.
- To discuss pathomechanisms and inform therapeutic development for HNRNP-RNDDs.
Main Methods:
- Literature review and analysis of patient databases.
- Phenotypic data compilation for over 1000 individuals.
- Synthesis of current knowledge on HNRNP-RNDD pathomechanisms.
Main Results:
- Detailed description of the phenotypic spectra for established HNRNP-RNDDs.
- Inclusion of data from over 1000 individuals with HNRNP-RNDDs.
- Identification of emerging HNRNP-RNDDs and candidate genes.
Conclusions:
- HNRNP genes play a critical role in neurodevelopment.
- Understanding HNRNP-RNDD phenotypes is crucial for diagnosis and management.
- Advances in pathomechanism research pave the way for targeted HNRNP-RNDD therapies.
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