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IGF1R mutations as cause of SGA
1Hospital for Children and Adolescents, University of Leipzig, Liebigstrasse 21, Leipzig, Germany. juergen.klammt@medizin.uni-leipzig.de
Summary
Monogenetic aberrations causing small for gestational age (SGA) are now understood due to insulin-like growth factor 1 receptor (IGF1R) gene mutations. These mutations reveal IGF1 resistance, impacting growth and potentially other developmental aspects.
Area of Science:
- Genetics
- Endocrinology
- Developmental Biology
Background:
- Monogenetic causes of small for gestational age (SGA) were poorly understood before 2003.
- The discovery of insulin-like growth factor 1 receptor (IGF1R) gene mutations in SGA patients established the concept of IGF1 resistance.
Purpose of the Study:
- To investigate the pathogenic impact of IGF1R mutations on human growth.
- To explore the multifaceted roles of the IGF-IGF1R system in growth, metabolism, and neurodevelopment.
Main Methods:
- Identification of individuals with IGF1R mutations.
- Comparative genetic, structural, and biochemical studies.
- Analysis of clinical manifestations associated with IGF1R mutations.
Main Results:
- IGF1R mutations are pathogenic for human longitudinal growth.
- Evidence supports the role of IGF1R in growth control and metabolic homeostasis.
- Variability in clinical manifestations suggests partially redundant functions within the IGF-IGF1R system.
Conclusions:
- IGF1R mutations are a significant cause of SGA and growth failure.
- The IGF-IGF1R system plays a crucial role in growth, metabolism, and neurodevelopment.
- Further research is needed to fully understand the complex functions of IGF1R.
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