HNRNPH2 Publications | Bain Brain Lab

Publications

Current H2 Research

HNRNPH2-Related Neurodevelopmental Disorder (H2/Bain Syndrome) is an extremely rare genetic condition, with research still in early stages.
Most scientific knowledge comes from small case studies and family-reported data, rather than large clinical trials.
Researchers study:
- How changes in the HNRNPH2 gene affect brain development
- Why symptoms vary so widely between individuals
- Which supports and therapies are most helpful over time
Families often participate by:
- Sharing medical and developmental histories
- Contributing survey data or natural-history information
- Connecting through advocacy and research networks
Because the condition is rare, every family contribution meaningfully improves understanding and helps guide future studies.

Why This Matters

H2 was only recently identified, so the medical literature is still developing.
Each published case adds critical information about:
- Developmental trajectories
- Common and less common medical features
- Response to therapies and interventions
Because there are so few documented individuals worldwide:
- No single study captures the full picture
- Progress depends on compiling insights across many reports
This growing body of literature helps:
- Families understand what may lie ahead
- Clinicians recognize and diagnose the condition earlier
- Researchers identify unanswered questions and priorities
Tracking how knowledge evolves over time highlights:
- What is well understood
- What remains uncertain
- Where future research could most improve quality of life

Research Timeline

2016
- Bain, J., Cho, M. T., Telegrafi, A., Wilson, A., Brooks, S. V., Botti, C., Gowans, G. C., Leigh Anne Autullo, Krishnamurthy, V., Willing, M. C., Toler, T. L., Bruria Ben-Zev, Orly Elpeleg, Shen, Y., Retterer, K., Monaghan, K. G., & Chung, W. K. (2016b). Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females. American Journal of Human Genetics, 99(3), 728–734. https://doi.org/10.1016/j.ajhg.2016.06.028
2019
- Salazar, R., Beenders, S., LaMarca, N., Thornburg, O., Snow, A., Goldman, S., & Bain, J. (2019). Motor Function of Individuals with HNRNPH2-related Disorders. (P5.6-012). Neurology, 92(15_supplement). https://doi.org/10.1212/wnl.92.15_supplement.p5.6-012
2020
- Ton, Goldman, S., Zhang, H., Salazar, R., Beenders, S., Cornett, K. M., Bain, J. M., Montes, J., & Zanotto, D. (2020). Validation of Insole-based Gait Analysis System in Young Children with a Neurodevelopmental Disorder and Autism Traits. 2020 8th IEEE RAS/EMBS International Conference for Biomedical Robotics and Biomechatronics (BioRob). https://doi.org/10.1109/biorob49111.2020.9224273
- Rome-Martin, D., Thornburg, O., & Bain, J. (2020). Evaluating the Use of OT Assessments in Individuals With the Ultra-Rare Disease HNRNPH2 Gene Variant. The American Journal of Occupational Therapy, 74(4_Supplement_1), 7411500032p1-7411500032p1. https://doi.org/10.5014/ajot.2020.74s1-po4208
- Salazar, R., Beenders, S., Thornburg, O., LaMarca, N., & Bain, J. (2020). The Pediatric Evaluation of Disability Inventory Computer Adaptive Test in Individuals with HNRNPH2-Related Disorders (4177). Neurology, 94(15_supplement). https://doi.org/10.1212/wnl.94.15_supplement.4177
2021
- Bain, J. M., Thornburg, O., Pan, C., Donnielle Rome-Martin, Boyle, L., Fan, X., Orrin Devinsky, Frye, R., Hamp, S., Keator, C. G., LaMarca, N. M., Maddocks, A. B. R., Madruga-Garrido, M., Niederhoffer, K. Y., Novara, F., Peron, A., Salvo, E. P.-D., Salazar, R., Skinner, S. A., & Soares, G. (2021). Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder. Neurology Genetics, 7(1). https://doi.org/10.1212/nxg.0000000000000551
2022
- Madhok, S., & Bain, J. (2022). HNRNPH2-Related Neurodevelopmental Disorder. GeneReviews®. https://pubmed.ncbi.nlm.nih.gov/36108116/
Full List
- Click here for all of Dr. Bain's publications.