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. 2022 May 2;132(9):e147253. doi: 10.1172/JCI147253

Figure 1. Histologic examination of a kidney biopsy from a patient with a P3H2 gene mutation, in a cohort of patients with albuminuria.

Figure 1

(A) Exact position of the P3H2 mutation. A nonsense mutation was detected at exon 4, with transition from cytosine (C) to thymidine (T) at position 1213, leading to a premature stop codon. (B) Pedigree of the patient. The patient was the second child of consanguineous parents, who was diagnosed with FSGS. Her brother was also diagnosed with FSGS but died during childhood. (C) Foot process effacement (red arrow) and an irregular and thickened GBM (yellow arrow) was observed on TEM micrographs of the patient’s biopsy. Scale bar: 0.5 μm. (D) Representative PAS staining showed focal glomerulosclerosis (red arrow). (E) Fibrosis was observed on AFOG staining (red arrow). (F) Representative MET staining shows a thickened GBM (red arrow). Scale bars: 20 μm (D–F).