case_images: PMC8667312_01
case_images: PMC8667312_02
case_images: (A,B) Individuals carrying the NPRL2 mutation are indicated by "m/+". Individuals with negative mutation are indicated by "+/+", and individuals without blood samples are indicated by "?".
case_images: fneur-12-780799-g0001.jpg
case_images: PMC8667312_02_fneur-12-780799-g0001.jpg
case_images: F1
case_images: Results from Sanger sequencing validated these findings and confirmed that both the father and child carried the same variant with a wild-type mother in Family A and B (Figure 1).