The fast technological development, particularly single nucleotide polymorphism array, array-comparative genomic hybridization, and whole exome/genome sequencing, has led to the discovery of many novel genetic causes of growth failure.
The growth hormone (GH) – insulin-like growth factor-I (IGF-I) axis is thought to be the central system regulating childhood growth and therefore responsible for short stature and tall stature. However, recent findings have revealed that the GH-IGF-I axis is just one of many regulatory systems that control chondrogenesis in the growth plate, the biological process that drives height gain. Consequently, normal growth in children depends on multiple hormones, paracrine factors, extracellular matrix molecules, fundamental cellular processes, chromosomal abnormalities, imprinting disorders and intracellular proteins that regulate growth plate chondrocytes. Mutations in genes encoding many of these local proteins cause short stature or tall stature.
Similarly, genome-wide association studies have revealed that the normal variation in height appears to be due largely to genes outside the GH-IGF-I axis that affect growth at the growth plate through a wide variety of mechanisms.
In our clinical research work based on the results of different genetic examinations and clinical findings we analyse the phenotype genotype correlations in children with growth disorders.