Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component.
Núria CatasúsBelen GarciaIván Galván-FemeníaAdrià PlanaAlejandro NegroInma RosasAndrea RosEmilio AmilibiaJuan Luis BecerraCristina HostalotFrancesc RocaribasIsabel BielsaConxi Lazaro GarciaRafael de CidEduard SerraIgnacio BlancoElisabeth Castellanosnull nullPublished in: Journal of medical genetics (2021)
We validated the UK NF2 GSS in a Spanish NF2 cohort, despite the significant phenotypic variability identified within it. The revision of the GSS, named Functional Genetic Severity Score, could add value for the classification of mosaic patients and patients showing mild and moderate phenotypes once it has been validated in other cohorts.
Keyphrases
- end stage renal disease
- signaling pathway
- chronic kidney disease
- ejection fraction
- newly diagnosed
- lps induced
- oxidative stress
- genome wide
- prognostic factors
- copy number
- pi k akt
- gene expression
- nuclear factor
- total knee arthroplasty
- immune response
- cross sectional
- dna methylation
- patient reported outcomes
- patient reported
- toll like receptor