biostudies-literatureOcaranza PNICHD NIH HHS412-422https://www.ebi.ac.uk/biostudies/studies/S-EPMC5509495biostudies-literatureUnknown87(6)<h4>Background</h4>The growth-promoting effects of IGF-I is mediated through the IGF-I receptor (IGF1R), a widely expressed cell-surface tyrosine kinase receptor. IGF1R copy number variants (CNV) can cause pre- and postnatal growth restriction or overgrowth.<h4>Methods</h4>Whole exome sequence (WES), chromosomal microarray, and targeted IGF1R gene analyses were performed on 3 unrelated children who share features of small for gestational age, short stature, and elevated serum IGF-I, but otherwise had clinical heterogeneity. Fluorescence-activated cell sorting (FACS) analysis of cell-surface IGF1R was performed on live primary cells derived from the patients.<h4>Results</h4>Two novel IGF1R CNV and a heterozygous IGF1R nonsense variant were identified in the 3 patients. One CNV (4.492 Mb) waHormone research in paediatricsExpanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.PMC5509495K23 HD073351R01 HD078592Guo MHCassorla FGolekoh MCKaplowitz PBackeljauw PFHwa VSaal HAndrew SFRosenfeld RGOcaranza PDauber AfalseExpanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.<h4>Background</h4>The growth-promoting effects of IGF-I is mediated through the IGF-I receptor (IGF1R), a widely expressed cell-surface tyrosine kinase receptor. IGF1R copy number variants (CNV) can cause pre- and postnatal growth restriction or overgrowth.<h4>Methods</h4>Whole exome sequence (WES), chromosomal microarray, and targeted IGF1R gene analyses were performed on 3 unrelated children who share features of small for gestational age, short stature, and elevated serum IGF-I, but otherwise had clinical heterogeneity. Fluorescence-activated cell sorting (FACS) analysis of cell-surface IGF1R was performed on live primary cells derived from the patients.<h4>Results</h4>Two novel IGF1R CNV and a heterozygous IGF1R nonsense variant were identified in the 3 patients. One CNV (4.492 Mb) wa2017-01-01T00:00:00Z20172026-05-05T11:21:38.168Z2019-03-26T23:27:47ZS-EPMC55094952839528210.1159/000464143