Fig. 2

Patient characteristics and genetic findings. a Family pedigree of the patient along with genotypes of the nonesense AGTR1 variant (c.415C > T; p.Arg139*). b Chromatogram of Sanger sequencing showing the variant position and genotypes of the 3 family members. c Schematic of AGTR1 gene body with highlights of protein domains and reported ClinVar variants. The yellow stars refer to the staring system of ClinVar which indicate the review status of the variant