Article
Description of Two Families with New Mutations in Familial Cerebral Cavernous Malformations Genes.
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association - 1 Dec 2021
Iruzubieta Pablo, Campo-Caballero David, Equiza Jon, Albajar Inés, Sulibarría Naroa, Sáez Raquel, Andrés Naiara, Mondragón Elisabet, Zulaica Miren, de Arce Ana, Urtasun Miguel, López de Munain Adolfo
Abstract excerpt
Cerebral cavernous malformations (CCMs) are dilated aberrant leaky capillaries located in the Central Nervous System. Familial CCM is an autosomal dominant inherited disorder related to mutations in KRIT1, Malcavernin or PDCD10. We show two unrelated families presenting familial CCM due to two new mutations in KRIT1 and PDCD10, producing truncated proteins. Clinical phenotype was highly variable among patients...
Topics
- Apoptosis Regulatory Proteins
- Hemangioma, Cavernous, Central Nervous System
- Humans
- KRIT1 Protein
- Membrane Proteins
- Meningioma
- Mutation
- Proto-Oncogene Proteins