Table 1 GRHPR gene Mutations identified in the patient’s family
| Â | Age | GRHPR gene | kidney stones | ||
|---|---|---|---|---|---|
c.295C > T (p. Arg99Ter), nonsense PV | c.512G > A (p. Arg171His), missense VUS | c.211G > A (p. Ala71Thr), missense VUS | |||
the patient | 27Y | + | + | + | +(symptomatic) |
the patient’s father | 52Y | – | + | + | – |
the patient’s mother | 50Y | + | – | – | +(asymptomatic) |
the patient’s son | 2Y6M | – | + | + | – |
the patient’s wife | 25Y | – | – | – | – |