The insulin-like growth factor (IGF) system comprises two ligands, IGF-I and IGF-II, that regulate multiple physiological processes, including mammalian development, metabolism and growth, through the type 1 IGF receptor (IGF-1R). The growth hormone (GH)-IGF-I axis is the major regulator of longitudinal growth. IGF-II is expressed in many tissues, notably the placenta, to regulate human pre- and post-natal growth and development. This review provides a brief introduction to the IGF system and summarizes findings from reports arising from recent larger genomic sequencing studies of human genetic mutations in IGF1 and IGF2 and genes of proteins regulating IGF action, namely the IGF-1R, IGF-1R signaling pathway components and the IGF binding proteins (IGFBPs). A perspective on the effect of homozygous mutations on structure and function of the IGFs and IGF-1R is also given and this is related to the effects on growth.

胰岛素样生长因子（IGF）系统包含两个配体IGF-I和IGF-II，它们通过1型IGF受体（IGF-1R）调节多种生理过程，包括哺乳动物的发育，代谢和生长。生长激素（GH）-IGF-1轴是纵向生长的主要调节因子。IGF-II在许多组织（尤其是胎盘）中表达，以调节人类出生前后的生长发育。这篇综述简要介绍了IGF系统，并总结了有关IGF1和IGF2中人类基因突变的最新大型基因组测序研究的报告结果。以及调节IGF作用的蛋白质的基因，即IGF-1R，IGF-1R信号通路成分和IGF结合蛋白（IGFBPs）。还给出了纯合突变对IGF和IGF-1R的结构和功能的影响的观点，这与对生长的影响有关。