Abstract
BackgroundInsulin-like growth factor-1 (IGF-1) is required for normal intrauterine and postnatal growth, and this action is mediated through IGF1 receptor (IGF1R). IGF1R copy number variants (CNVs) can cause pre- and postnatal growth restriction, affecting an individual’s height. In this study, we used multiplex ligation-dependent probe amplification (MLPA) to detect CNVs in IGF1R, IGFALS, and IGFBP3 genes in the diagnostic workup of short stature for 40 Egyptian children with short stature. ResultsWe detected a heterozygous deletion of IGF1R (exons 4 through 21) in 1 out of the 40 studied children (2.5%). Meanwhile, we did not detect any CNVs in either IGFALS or IGFBP3. ConclusionThe diagnostic workup of short stature using MLPA for CNVs of IGF1R and other recognized height-related genes, such as SHOX and GH, in non-syndromic short stature children can be a fast and inexpensive diagnostic tool to recognize a subcategory of patients in which growth hormone treatment can be considered.
Highlights
Insulin-like growth factor-1 (IGF-1) is required for normal intrauterine and postnatal growth, and this action is mediated through IGF1 receptor (IGF1R)
We describe a patient with a deletion of exons 4–21 in one allele of IGF1R gene and who presented to our clinic with short stature
The IGF1R, IGFALS, and IGFBP3 copy number variants (CNVs) were studied in 40 short stature children
Summary
Insulin-like growth factor-1 (IGF-1) is required for normal intrauterine and postnatal growth, and this action is mediated through IGF1 receptor (IGF1R). In the majority of short children, no final diagnosis can be reached, and they are categorized under idiopathic short stature (ISS) or SGA with failure of catch-up growth [3]. Insulin-like growth factor-1 (IGF-I) is essential for normal intrauterine and postnatal growth. The growthpromoting functions of IGF-I are mediated via the IGF1 cell receptor (IGF1R) [4, 5]. IGF1R is a tetrameric (α2/β2) transmembrane tyrosine kinase [6]. This receptor plays a pivotal role in the regulation of cell proliferation and metabolism and influences cancer development and life span [7,8,9]
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