P338: Studying the role of the DIP2C gene in humans and zebrafish
The disconnected (disco)-interacting protein 2 (DIP2) gene regulates axonal bifurcation of mushroom body neurons in D.melanogaster and is required for axonal regeneration in the neurons of C.elegans. The three human homologues for DIP2, DIP2A, DIP2B, and DIP2C, are highly conserved and widely expressed in the central nervous system. We recently reported 23 individuals with heterozygous variants in DIP2C that all manifest developmental delays primarily affecting expressive language and speech articulation.
Authors
- M. Pauly (ORCID: https://orcid.org/0000-0001-8875-0022)
- Alpa Sidhu (ORCID: https://orcid.org/0000-0002-8980-5029)
- Anne Slavotinek (ORCID: https://orcid.org/0000-0001-7053-2449)
- Georgia Vasileiou (ORCID: https://orcid.org/0000-0002-1993-1134)
- Ajay Deepak Verma
- Jacob A. Ginter (ORCID: https://orcid.org/0000-0001-8481-3559)
- Stephanie Htun
- Angela Morgan
- Thomas Scerri (ORCID: https://orcid.org/0000-0003-0992-4042)
- L. Walker (ORCID: https://orcid.org/0000-0003-1354-0826)
- Ingrid M.B.H. van de Laar (ORCID: https://orcid.org/0000-0002-2523-1230)
- Katelyn Beatty
- Jenny Do
- Madison Moe
- Matthew A. Deardorff
Institutions
- Cincinnati Children's Hospital Medical Center (US)
- Children's Hospital of Los Angeles (US)
- University of California, San Francisco (US)
- Keck Hospital of USC (US)
- Erasmus MC (NL)
- Universitätsklinikum Erlangen (DE)
- University of Iowa Health Care (US)
- Murdoch Children's Research Institute (AU)
- The University of Texas Medical Branch at Galveston (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102303
- Primary Topic
- RNA modifications and cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00