IGF1R, IGFALS, and IGFBP3 gene copy number variations in a group of non-syndromic Egyptian short children
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 s...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2021-07-01
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| Series: | Journal of Genetic Engineering and Biotechnology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s43141-021-00202-6 |
| _version_ | 1797203931097464832 |
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| author | Islam M. Fadel Moustafa H. Ragab Ola M. Eid Nivine A. Helmy Hala T. El-Bassyouni Inas Mazen |
| author_facet | Islam M. Fadel Moustafa H. Ragab Ola M. Eid Nivine A. Helmy Hala T. El-Bassyouni Inas Mazen |
| author_sort | Islam M. Fadel |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-24T08:27:10Z |
| format | Article |
| id | doaj.art-a4cf0d7ce8fc4cad81802e9f379aa538 |
| institution | Directory Open Access Journal |
| issn | 2090-5920 |
| language | English |
| last_indexed | 2024-04-24T08:27:10Z |
| publishDate | 2021-07-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Journal of Genetic Engineering and Biotechnology |
| spelling | doaj.art-a4cf0d7ce8fc4cad81802e9f379aa5382024-04-16T22:10:17ZengElsevierJournal of Genetic Engineering and Biotechnology2090-59202021-07-011911710.1186/s43141-021-00202-6IGF1R, IGFALS, and IGFBP3 gene copy number variations in a group of non-syndromic Egyptian short childrenIslam M. Fadel0Moustafa H. Ragab1Ola M. Eid2Nivine A. Helmy3Hala T. El-Bassyouni4Inas Mazen5Department of Human Cytogenetics, National Research CentreDepartment of Medical Environmental Research, Institute of Environmental Studies and Research, Ain Shams UniversityDepartment of Human Cytogenetics, National Research CentreDepartment of Human Cytogenetics, National Research CentreDepartment of Clinical Genetics, National Research CentreDepartment of Clinical Genetics, National Research CentreAbstract 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.https://doi.org/10.1186/s43141-021-00202-6Short statureCopy number variations (CNVs)Multiplex ligation-dependent probe amplification (MLPA)IGF1RALSIGFBP3 |
| spellingShingle | Islam M. Fadel Moustafa H. Ragab Ola M. Eid Nivine A. Helmy Hala T. El-Bassyouni Inas Mazen IGF1R, IGFALS, and IGFBP3 gene copy number variations in a group of non-syndromic Egyptian short children Journal of Genetic Engineering and Biotechnology Short stature Copy number variations (CNVs) Multiplex ligation-dependent probe amplification (MLPA) IGF1R ALS IGFBP3 |
| title | IGF1R, IGFALS, and IGFBP3 gene copy number variations in a group of non-syndromic Egyptian short children |
| title_full | IGF1R, IGFALS, and IGFBP3 gene copy number variations in a group of non-syndromic Egyptian short children |
| title_fullStr | IGF1R, IGFALS, and IGFBP3 gene copy number variations in a group of non-syndromic Egyptian short children |
| title_full_unstemmed | IGF1R, IGFALS, and IGFBP3 gene copy number variations in a group of non-syndromic Egyptian short children |
| title_short | IGF1R, IGFALS, and IGFBP3 gene copy number variations in a group of non-syndromic Egyptian short children |
| title_sort | igf1r igfals and igfbp3 gene copy number variations in a group of non syndromic egyptian short children |
| topic | Short stature Copy number variations (CNVs) Multiplex ligation-dependent probe amplification (MLPA) IGF1R ALS IGFBP3 |
| url | https://doi.org/10.1186/s43141-021-00202-6 |
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