PMC8155745_01
DNA sequencing of exon 1 from the SLC22A5 gene (A) demonstrating the patient
to be a compound heterozygote for mutations c.41G>A and c.34G>A. The
patient's father is heterozygous for the c.41G>A nonsense mutation, and
her mother is heterozygous for the c.34G>A missense mutation. The
c.41G>A variant results in a premature stop codon in place of Trp at
amino acid 14, and the C.34G>A variant results in substitution of Ser for
Gly at amino acid 12. The pattern of inheritance is more clearly presented
in the patient's pedigree (B).
10.1177_23247096211019543-fig1.jpg
PMC8155745_01_10.1177_23247096211019543-fig1.jpg
fig1-23247096211019543
Specifically, the patient's mother was the source of the c.34G>A (p.Gly12Ser) mutation, and her father was the source of the c.41G>A (p.Trp14Ter) mutation. Sanger sequencing results and the patient's pedigree are presented in Figure 1.