Article
Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants.
Clinical genetics - 1 Jun 2021
Fusco Carmela, Nardella Grazia, Petracca Antonio, Ronchi Dario, Paciello Nicola, Di Giacomo Marilena, Gambardella Stefano, Lanfranconi Silvia, Zampatti Stefania, D'Agruma Leonardo, Micale Lucia, Castori Marco
Abstract excerpt
Cerebral cavernous malformation (CCM) is a vascular malformation of the central nervous system which may occur sporadically or segregate within families due to heterozygous variants in KRIT1/CCM1, MGC4607/CCM2 or PDCD10/CCM3. Intronic variants are not uncommon in familial CCM, but their clinical interpretation is often hampered by insufficient data supporting in silico predictions. Here, the mRNA analysis for two...
Topics
- Apoptosis Regulatory Proteins
- Hemangioma, Cavernous, Central Nervous System
- Humans
- KRIT1 Protein
- Membrane Proteins
- Mutation
- Proto-Oncogene Proteins
- RNA Splicing
- RNA, Messenger