{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T14:15:36Z","timestamp":1777040136659,"version":"3.51.4"},"reference-count":46,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T00:00:00Z","timestamp":1745452800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"the National Health Program (XIII Programul national de s\u0103n\u0103tate a femeii si copilului 2.3)"},{"name":"the University of Medicine and Pharmacy of Craiova, Romania"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Background: Previously reported STAG1 gene-related cohesinopathies describe a range of clinical features, typically including intellectual disability (ID), facial dysmorphisms, and limb anomalies. Case presentation: We present the case of an 8-year-old girl with main findings including ID, central precocious puberty (CPP), and bone fragility. Panel genetic testing revealed a pathogenic STAG1 variant, NM_005862.3:c.2116del p.(Asp706Ilefs*15), which can only partially explain the clinical phenotype. Reports of STAG1-related cohesinopathies, including ours, have consistently described developmental and intellectual disabilities. In our case, the etiology of CPP and bone fragility remains unexplained. We discuss the challenges and limitations of current molecular tools in assessing cases with overlapping, apparently unlinked phenotypes, while speculating whether the common occurrence could be explained by STAG1 instead. Conclusions: The clinical spectrum of cohesinopathies is still poorly understood. Complex phenotypes with apparently unrelated clinical features warrant further careful investigation and illustrate the challenges of molecular diagnosis.<\/jats:p>","DOI":"10.3390\/diagnostics15091076","type":"journal-article","created":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:04:50Z","timestamp":1745467490000},"page":"1076","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["STAG1 Disease, Central Precocious Puberty, and Bone Fragility\u2014A Case Report"],"prefix":"10.3390","volume":"15","author":[{"given":"Rebecca-Cristiana","family":"\u0218erban","sequence":"first","affiliation":[{"name":"Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreea-M\u0103d\u0103lina","family":"Mitu\u021b-Veli\u0219cu","sequence":"additional","affiliation":[{"name":"Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrei","family":"Costache","sequence":"additional","affiliation":[{"name":"Department of Biophysics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lumini\u021ba-Nicoleta","family":"Cima","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes, Nutrition and Metabolic Diseases, \u201cElias\u201d Emergency University Hospital, 011461 Bucharest, Romania"},{"name":"Department of Endocrinology and Diabetes, Nutrition and Metabolic Diseases, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"Niculescu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aritina","family":"Moro\u0219anu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anca-Lelia","family":"Riza","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania"},{"name":"Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ioana","family":"Strea\u021b\u0103","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania"},{"name":"Regional Centre of Medical Genetics Dolj, Emergency County Hospital Craiova, 200642 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,4,24]]},"reference":[{"key":"ref_1","first-page":"157","article-title":"Cohesins, cohesin-regulators: Role in Chromosome Segregation\/Repair, Potential in Tumorigenesis","volume":"16","author":"Barbero","year":"2012","journal-title":"Atlas Genet. 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