Fig 4. INPP5E mRNA and protein expression in the affected and control kidney tissue.

(A) The variant causes a frameshift in INPP5E and activates a novel splice site in exon 9 deleting 50 bp from the 3´ end of exon 9 (indicated with orange box) and introducing a premature stop codon (B) A shorter mRNA product is produced in the affected kidney compared to control. (C) No wild-type INPP5E protein was detected in the Western blot of the affected kidney. α–tubulin was used as loading control.