PMC9908584_01
(A) Pedigree of the study family. (B,C) Abdomen US indicating bilateral echogenic foci within the renal collecting system. (D) Sanger sequence chromatogram showing the heterozygous HPRT1 variant (NM_000194.2:c.539del. p. G180Dfs*10) in the patient and wild-type sequence in her parents.
fgene-13-1044936-g001.jpg
PMC9908584_01_fgene-13-1044936-g001.jpg
F1
A female patient from a nonconsanguineous Saudi family was recruited from a medical genetics clinic at the King Faisal Specialist Hospital and Research Centre (KFSHRC) (Figure 1A).