Fig. 2From: Early-onset COQ8B (ADCK4) glomerulopathy in a child with isolated proteinuria: a case report and literature reviewGenomic analysis. WES results of the patient and his parents indicate that our patient has 2 variants in the COQ8B gene: (a) c.[271C > T], p.(Arg91Cys), exon 4, chr19:41219990, inherited from his father; (b) c.[737G > A], p.(Ser246Asn), exon 9, chr19:41209508, inherited from his mother. Mitochondrial variants are not foundBack to article page