First Report of a Child With a DeSanto-Shinawi Syndrome and a Polymorphous Low-Grade Neuroepithelial Tumor of the Young - PubMed
4 days ago
- #DeSanto-Shinawi syndrome
- #WAC gene
- #PLNTY
- First report of a child with DeSanto-Shinawi syndrome (DESSH) and a polymorphous low-grade neuroepithelial tumor of the young (PLNTY).
- DESSH is linked to loss-of-function variants in the WAC gene, causing neurodevelopmental disorders like intellectual disability, seizures, and autism.
- The WAC gene regulates gene transcription, histone monoubiquitination, and DNA damage response, interacting with p53.
- A 15-year-old boy with DESSH had a WAC variant and a PLNTY with an FGFR2-INA fusion.
- Germline variants in NF1 and SDHA genes were also identified, suggesting a potential role of WAC in early tumor development.
- Highlights the importance of oncogenetic testing in patients with rare neurodevelopmental syndromes and brain tumors.