Insulin-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. We 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. The 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.

中文翻译：

---

一组非综合征型埃及矮个儿童的 IGF1R、IGFALS 和 IGFBP3 基因拷贝数变异

胰岛素样生长因子-1 (IGF-1) 是正常宫内和出生后生长所必需的，这种作用是通过 IGF1 受体 (IGF1R) 介导的。IGF1R 拷贝数变异 (CNV) 会导致产前和产后生长受限，从而影响个体的身高。在这项研究中，我们使用多重连接依赖探针扩增 (MLPA) 检测 IGF1R、IGFALS 和 IGFBP3 基因中的 CNV，用于 40 名埃及身材矮小儿童的身材矮小诊断检查。我们在 40 名研究儿童中的 1 名 (2.5%) 中检测到 IGF1R（外显子 4 至 21）的杂合缺失。同时，我们没有在 IGFALS 或 IGFBP3 中检测到任何 CNV。使用 MLPA 对 IGF1R 和其他公认的身高相关基因（如 SHOX 和 GH）的 CNV 进行矮身材的诊断检查，