{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Ocaranza P"],"funding":["NICHD NIH HHS"],"pagination":["412-422"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5509495"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["87(6)"],"pubmed_abstract":["<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) wa"],"journal":["Hormone research in paediatrics"],"pubmed_title":["Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies."],"pmcid":["PMC5509495"],"funding_grant_id":["K23 HD073351","R01 HD078592"],"pubmed_authors":["Guo MH","Cassorla F","Golekoh MC","Kaplowitz P","Backeljauw PF","Hwa V","Saal H","Andrew SF","Rosenfeld RG","Ocaranza P","Dauber A"],"additional_accession":[]},"is_claimable":false,"name":"Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.","description":"<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) wa","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017","modification":"2026-05-05T11:21:38.168Z","creation":"2019-03-26T23:27:47Z"},"accession":"S-EPMC5509495","cross_references":{"pubmed":["28395282"],"doi":["10.1159/000464143"]}}