{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T20:31:19Z","timestamp":1790195479735,"version":"4.1.0"},"reference-count":47,"publisher":"The Endocrine Society","issue":"4","license":[{"start":{"date-parts":[[2024,10,16]],"date-time":"2024-10-16T00:00:00Z","timestamp":1729036800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"BIBLIOSAN"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,3,17]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>Silver\u2013Russell Syndrome (SRS) is a growth retardation disorder characterized by pre- and postnatal growth failure, relative macrocephaly at birth, prominent forehead, body asymmetry, and feeding difficulties. The main molecular mechanisms are imprinting alterations at multiple loci, though a small number of pathogenic variants have been reported in the SRS genes IGF2-PLAG1-HMGA2 and CDKN1C. However, around 40% of clinically suspected SRS cases do not achieve a molecular diagnosis, highlighting the necessity to uncover the underlying mechanism in unsolved cases.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Evaluate the frequency of genetic variants in undiagnosed SRS patients [Netchine\u2013Harbison Clinical Scoring System (NH-CSS) \u2265 4], and investigate whether (epi)genetic patients may be distinguished from genetic patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>One hundred thirty-two clinically SRS patients without (epi)genetic deregulations were investigated by whole-exome (n = 15) and targeted (n = 117) Sequencing. Clinical data from our cohort and from an extensive revision of the literature were compared.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Pathogenic variants were identified in 9.1% of this cohort: 3% in IGF2, PLAG1, and HMGA2 genes and 3% in the IGF1R gene, associated with IGF-1 resistance (IGF1RES), an SRS differential diagnosis. Overall, IGF2-PLAG1-HMGA2 and IGF1R account for 3.6% of SRS with NH-CSS score \u2265 4. A clinical cross-comparison of (epi)genetic vs genetic SRS underlined (epi)genotype-phenotype correlation highlighted the prevalence of body asymmetry and relative macrocephaly in mosaic (epi)genetic SRS and recurrence of genetic familial cases. Furthermore, overlapping features were evidenced in (epi)genetic SRS and IGF1RES patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our study explores the frequency of genetic SRS, underscores body asymmetry as a distinctive phenotype in (epi)genetic SRS and suggests IGF1R sequencing in a SRS diagnostic flowchart.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/clinem\/dgae730","type":"journal-article","created":{"date-parts":[[2024,10,14]],"date-time":"2024-10-14T15:32:16Z","timestamp":1728919936000},"page":"e932-e944","source":"Crossref","is-referenced-by-count":7,"title":["Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver\u2013Russell Syndrome and Focus on the\n                    <i>IGF1R<\/i>\n                    Gene"],"prefix":"10.1210","volume":"110","author":[{"given":"Alessandro","family":"Vimercati","sequence":"first","affiliation":[{"name":"Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano , 20145 Milan ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierpaola","family":"Tannorella","sequence":"additional","affiliation":[{"name":"Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano , 20145 Milan ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Guzzetti","sequence":"additional","affiliation":[{"name":"Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano , 20145 Milan ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luciano","family":"Calzari","sequence":"additional","affiliation":[{"name":"Bioinformatics and Statistical Genomic Unit, IRCCS Istituto Auxologico Italiano , 20145 Milan ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Gentilini","sequence":"additional","affiliation":[{"name":"Bioinformatics and Statistical Genomic Unit, IRCCS Istituto Auxologico Italiano , 20145 Milan ,","place":["Italy"]},{"name":"Department of Brain and Behavioral Sciences, University of Pavia , 27100 Pavia ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuela","family":"Manfredini","sequence":"additional","affiliation":[{"name":"Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano , 20145 Milan ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Gori","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Meyer Children's Hospital IRCCS , 50139 Florence ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rossella","family":"Gaudino","sequence":"additional","affiliation":[{"name":"Pediatric Unit, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona , 37129 Verona ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Antona","sequence":"additional","affiliation":[{"name":"Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties \u201cG. D'Alessandro,\u201d University of Palermo , 90127 Palermo ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Piccione","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo , 90127 Palermo ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Daolio","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori , 20900 Monza ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renata","family":"Auricchio","sequence":"additional","affiliation":[{"name":"European Laboratory for the Investigation of Food Induced Diseases, Department of Translational Medical Science, Section of Pediatrics, University Federico II , 80131 Naples 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