Article
Single-nucleus DNA sequencing reveals hidden somatic loss-of-heterozygosity in Cerebral Cavernous Malformations.
Nature communications - 2 Nov 2023
Ressler Andrew K, Snellings Daniel A, Girard Romuald, Gallione Carol J, Lightle Rhonda, Allen Andrew S, Awad Issam A, Marchuk Douglas A
Abstract excerpt
Cerebral Cavernous Malformations (CCMs) are vascular malformations of the central nervous system which can lead to moderate to severe neurological phenotypes in patients. A majority of CCM lesions are driven by a cancer-like three-hit mutational mechanism, including a somatic, activating mutation in the oncogene PIK3CA, as well as biallelic loss-of-function mutations in a CCM gene. However, standard sequencing...
Topics
- Humans
- Hemangioma, Cavernous, Central Nervous System
- KRIT1 Protein
- Proto-Oncogene Proteins
- Apoptosis Regulatory Proteins
- Mutation
- Sequence Analysis, DNA