Targeted gene/phenotype/disorder under study:
CRMP1 (#602462) – DPYSL2 (#602463) – DPYSL3 (#601168) – DPYSL4 (#608407) – DPYSL5 (#608383)
DPYSL genes play a crucial role in neurogenesis by regulating dendritic outgrowth. Missense variants in DPYSL5 cause a neurodevelopmental disorder associated with brain malformations, including corpus callosum agenesis and posterior fossa anomalies (Jeanne et al., 2021). Accumulating evidence suggests that damaging variants in other genes of the DPYSL family could be associated with similar disorders (CRMP1: Ravindran et al., 2022, DPYSL2 : Suzuki et al., 2022, DPYSL3 : Tsutiya et al., 2017).
We are compiling a series of patients with variants in these 5 genes to delineate phenotypes and genotypes associated with this gene family. Most variants identified so far are de novo missense variants. Of note, except DPYSL5, these genes are not associated with a human disease in OMIM and are likely to be filtered out in the early bioinformatic analysis.
Médéric JEANNE, MD, PhD – firstname.lastname@example.org
Solène REMIZE – email@example.com
Genetics department, University Hospital of Tours, France
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No