Novel CCM2 missense variants abrogating the CCM1-CCM2 interaction cause cerebral cavernous malformations.

Françoise BergamettiGeraldine ViotChristophe VernyMarie Pierre BrechardChristian DenierPierre LabaugePaul PetitAurélien NouetFrançois VialletAnnabelle ChaussenotDominique HervéElisabeth Tournier-LasserveFlorence Riant

Published in: Journal of medical genetics (2020)

We showed, using co-immunoprecipitation experiments, that CCM2 missense variants located in the PTB domain were actually damaging by preventing the normal interaction between CCM1 and CCM2. These data are important for diagnosis and genetic counselling, which are challenging in patients harbouring such variants.

Keyphrases

copy number
end stage renal disease
newly diagnosed
intellectual disability
ejection fraction
genome wide
prognostic factors
peritoneal dialysis
subarachnoid hemorrhage
gene expression
dna methylation
patient reported outcomes
machine learning
human immunodeficiency virus
hiv infected
men who have sex with men