23rd May 2025

A 27-year-old male has been treated for severe symptomatic hypocalcaemia.

A 27-year-old male has been treated for severe symptomatic hypocalcaemia. He informs you he has a genetic condition which he has inherited from mother. You notice his short stature and round face. On examination of his hands, you see the following:

Mutation in what gene is the cause of the syndrome described?

Select the SINGLE most appropriate option from the list below. Select ONE option only.