PMC6077661_01
PMC6077661_02
PMC6077661_03
Three patients showed no amplification in PROP1 locus, whereas reference gene (Mediterranean fever-MEFV) was amplified. Healthy controls and healthy family members showed successful amplifications either.
CRIE2018-2403430.001.jpg
PMC6077661_03_CRIE2018-2403430.001.jpg
fig1
On behalf of these results, gross deletion involving PROP1 coding region was concluded as disease causing mutation in these patients (Figure 1).