Fig. 1
From: Prenatal diagnosis of dent disease type I with a nonsense pathogenic variant in CLCN5: a case study
(A) Ultrasound scan of a foetus in early pregnancy. (B) Sequence analysis of the CLCN5 gene in the foetus, son and parents confirmed the novel c.1942 C > T variant in exon 11. (C) Schematic representation of the CLCN5 gene structure reflecting the c.1942 C > T (exon 11, NM_000084.5) variant described in this paper. The pathogenic variant changes the arginine (CGA) encoded in exon 10 to a stop codon (p.R648*) (TGA), resulting in the loss of 100 amino acids