| Autor: |
Islam M. Fadel, Moustafa H. Ragab, Ola M. Eid, Nivine A. Helmy, Hala T. El-Bassyouni, Inas Mazen |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
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| Zdroj: |
Journal of Genetic Engineering and Biotechnology, Vol 19, Iss 1, Pp 1-7 (2021) |
| Druh dokumentu: |
article |
| ISSN: |
2090-5920 |
| DOI: |
10.1186/s43141-021-00202-6 |
| Popis: |
Abstract Background 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. Results 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. Conclusion 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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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