ClinVar

During an epidemiologic survey of a Dutch population, van Hooft et al. (1991) found a family in which plasma trypsin-activated prorenin was elevated in the 58-year-old father, his son, and 1 of his sisters. All family members were normotensive and had normal plasma renin activities. By exon sequencing of the renin gene of the proband and of his son after PCR amplification, Villard et al. (1994) identified a point mutation in the last exon of the gene, exon 10. Mutation occurred at a position corresponding to codon 387 of the preprorenin cDNA. A C-to-T transition introduced a premature stop codon (TGA) in the renin gene sequence in place of the normal CGA (arg) at codon 387. The mutated allele should direct the synthesis of a truncated form of renin, with 20 amino acids deleted from the carboxyl terminus.