Phenotypic characterization of Familial Mediterranean Fever patients harboring variants of uncertain significance

Alper Sari Erdal Bodakci Berkan Armağan Hasan Satiş Nuh Atas Nazife Şule Yaşar Bilge Reyhan Bilici Salman Gözde Kübra Yardimci Hakan Babaoglu Levent Kilic Mehmet Akif Ozturk Seminur Haznedaroğlu Berna Göker Umut Kalyoncu Timucin Kaşifoglu Abdurrahman Tufan

Published in: Turkish journal of medical sciences (2021)

Our findings suggest that patients with single heterozygous VUS has mild FMF phenotype similar to those with single pathogenic mutation. Pathogenic/VUS complex heterozygosity does not lead to a more severe clinical phenotype than having a single pathogenic variant.

Keyphrases

early onset
end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
peritoneal dialysis
copy number
gene expression
patient reported outcomes
patient reported