Abstract
Familial cerebral cavernous malformation (FCCM) is an autosomal dominant vascular disorder caused by heterozygous deleterious variants in KRIT1, CCM2 or PDCD10. In a previous study, we presented the clinical and molecular findings in 140 FCCM individuals. In the present work, we report supporting information on (a) applied diagnostic workflow; (b) clinical significance of molecular findings according to the American College of Medical Genetics and Genomics/Association for Molecular Pathology recommendations; (c) standardization of molecular and clinical data according to the Human Phenotype Ontology; (d) preliminary genotype-phenotype correlations on a subgroup of patients by considering sex, age at diagnosis, neurological symptoms, and number and anatomical site(s) of vascular anomalies; (e) datasets submitted to the Leiden Open Variation Database. An overview of the changes of our diagnostic approach before and after the transition to next-generation sequencing is also reported. This work presents the full procedure that we apply for molecular testing, data interpretation and storing in public databases in FCCM.
Original language | English |
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Pages (from-to) | e24-e36 |
Journal | Human Mutation |
Volume | 40 |
Issue number | 11 |
DOIs | |
Publication status | Published - Nov 1 2019 |
Keywords
- CCM2
- human phenotype ontology
- KRIT1
- leiden open variation database
- mutation
- PDCD10
- variant interpretation
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)