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Updated: Jan 22, 2026

Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model
05:12

Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model

Published on: September 4, 2017

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Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140

Carmela Fusco1, Massimiliano Copetti2, Tommaso Mazza3

  • 1Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.

Human Mutation
|June 30, 2019
PubMed

Insights

Familial cerebral cavernous malformation (FCCM) is a genetic disorder. This study details the diagnostic workflow, data interpretation, and genotype-phenotype correlations for FCCM patients, enhancing disease understanding and management.

Area of Science:

  • Genetics
  • Neurology
  • Vascular Biology

Background:

  • Familial cerebral cavernous malformation (FCCM) is an autosomal dominant vascular disorder.
  • It is caused by heterozygous deleterious variants in KRIT1, CCM2, or PDCD10 genes.
  • Previous work identified clinical and molecular findings in 140 FCCM individuals.

Purpose of the Study:

  • To report supporting information on the diagnostic workflow for FCCM.
  • To detail the clinical significance of molecular findings and data standardization.
  • To present preliminary genotype-phenotype correlations and data submission to public databases.

Main Methods:

  • Applied diagnostic workflow for FCCM molecular testing.
  • Interpretation of molecular findings using ACMG/AMP recommendations.
  • Standardization of clinical and molecular data using Human Phenotype Ontology.
  • Genotype-phenotype correlation analysis in a patient subgroup.
  • Data submission to the Leiden Open Variation Database.

Main Results:

  • Detailed diagnostic workflow for FCCM, including changes with next-generation sequencing.
  • Assessment of clinical significance of identified variants.
  • Standardized data for improved research and clinical care.
  • Preliminary genotype-phenotype correlations considering clinical factors.
  • Submission of datasets to a public variation database.

Conclusions:

  • This work provides a comprehensive overview of the FCCM diagnostic procedure.
  • It emphasizes molecular testing, data interpretation, and public data storage.
  • The findings contribute to a better understanding and management of FCCM.
Keywords:
CCM2KRIT1PDCD10human phenotype ontologyleiden open variation databasemutationvariant interpretation

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