Characterization of an activating R1353H insulin-like growth factor 1 receptor variant in a male with extreme tall height

Objective The insulin-like growth factor1 receptor (IGF1R) is important in growth and development, and inactivating IGF1R mutations cause short stature and relatively high levels of serum IGF-I. We identified an unclassified IGF1R R1353H variant in a male with extreme tall height, very low levels of serum IGF-I and delayed and prolonged growth spurt. The index case’s mother and three sons all carried the variant, but so far only the eldest son...