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IGF1R, IGFALS, and IGFBP3 gene copy number variations in a group of non-syndromic Egyptian short children.
Fadel, Islam M; Ragab, Moustafa H; Eid, Ola M; Helmy, Nivine A; El-Bassyouni, Hala T; Mazen, Inas.
Afiliación
  • Fadel IM; Department of Human Cytogenetics, National Research Centre, El Buhouth St., Dokki, Cairo, 12622, Egypt. dr.islamfadel@gmail.com.
  • Ragab MH; Department of Medical Environmental Research, Institute of Environmental Studies and Research, Ain Shams University, El Khalifa El Maamon Street, Cairo, 12622, Egypt.
  • Eid OM; Department of Human Cytogenetics, National Research Centre, El Buhouth St., Dokki, Cairo, 12622, Egypt.
  • Helmy NA; Department of Human Cytogenetics, National Research Centre, El Buhouth St., Dokki, Cairo, 12622, Egypt.
  • El-Bassyouni HT; Department of Clinical Genetics, National Research Centre, El Bohouth Street, Dokki, Cairo, 12622, Egypt.
  • Mazen I; Department of Clinical Genetics, National Research Centre, El Bohouth Street, Dokki, Cairo, 12622, Egypt.
J Genet Eng Biotechnol ; 19(1): 109, 2021 Jul 28.
Article en En | MEDLINE | ID: mdl-34322776
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Genet Eng Biotechnol Año: 2021 Tipo del documento: Article País de afiliación: Egipto Pais de publicación: Países Bajos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Genet Eng Biotechnol Año: 2021 Tipo del documento: Article País de afiliación: Egipto Pais de publicación: Países Bajos