A 15-year-old young boy with short stature, bony aches and pains, and learning difficulties comes to the clinic for review.
The most marked abnormality on examination is a short fifth digit on each hand.
Investigations reveal a calcium of 2.05 mmol/l (2.20-2.61), and a phosphate of 1.8 mmol/l (0.8-1.5).
Which of the following abnormalities is most likely to be present?
a) Alpha subunit G protein mutation
b) Beta subunit G protein mutation
c) Gamma subunit G protein mutation
d) Renal tubular disorder
e) Vitamin D receptor mutation
Answer
a) Alpha subunit G protein mutation