{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T22:12:20Z","timestamp":1757628740920,"version":"3.44.0"},"reference-count":39,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2025,7,8]],"date-time":"2025-07-08T00:00:00Z","timestamp":1751932800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>A subset of genetic conditions, particularly skeletal dysplasias, comprises a heterogeneous group of inherited disorders characterized by abnormal bone development, joint stiffness, and short stature. Their musculoskeletal manifestations frequently mimic those of rheumatic diseases, especially Juvenile Idiopathic Arthritis (JIA), complicating accurate diagnosis. We conducted a comprehensive clinical, radiological, and molecular evaluation of 47 individuals (23 males, 24 females) from 22 distinct families who presented primarily with non\u2010inflammatory musculoskeletal complaints. Genomic investigations included targeted next\u2010generation sequencing panels, chromosomal microarray analysis, and multiplex ligation\u2010dependent probe amplification. Pathogenic or likely pathogenic variants were identified in all cases, establishing the following diagnoses: Hereditary Multiple Exostoses (<jats:italic>n<\/jats:italic>\u2009=\u20099), Camptodactyly\u2010Arthropathy\u2010Coxa Vara\u2010Pericarditis syndrome (<jats:italic>n<\/jats:italic>\u2009=\u200912), Progressive Pseudorheumatoid Dysplasia (<jats:italic>n<\/jats:italic>\u2009=\u20097), Trichorhinophalangeal Syndrome types I\/II (<jats:italic>n<\/jats:italic>\u2009=\u20095), Spondyloenchondrodysplasia with Immune Dysregulation (<jats:italic>n<\/jats:italic>\u2009=\u20096), Pseudoachondroplasia (<jats:italic>n<\/jats:italic>\u2009=\u20093), Primary Hypertrophic Osteoarthropathy type 1 (<jats:italic>n<\/jats:italic>\u2009=\u20091), Ehlers\u2013Danlos Syndrome (<jats:italic>n<\/jats:italic>\u2009=\u20092), Multicentric Osteolysis\u2010Nodulosis\u2010Arthropathy (<jats:italic>n<\/jats:italic>\u2009=\u20091), and Mucopolysaccharidosis type VI (<jats:italic>n<\/jats:italic>\u2009=\u20091). Certain genetic disorders may present with musculoskeletal manifestations that closely resemble those of rheumatic diseases. Therefore, a comprehensive evaluation for underlying genetic causes is essential in patients with non\u2010inflammatory skeletal findings, as it improves diagnostic precision and guides appropriate management strategies. This study aims to investigate the clinical and molecular features of patients with non\u2010inflammatory musculoskeletal involvement, with a particular focus on the phenotypic overlap between genetic disorders and rheumatic diseases. Furthermore, seven novel variants were identified, expanding the mutational spectrum associated with these rare conditions and contributing new insights to the existing literature.<\/jats:p>","DOI":"10.1002\/ajmg.a.64174","type":"journal-article","created":{"date-parts":[[2025,7,8]],"date-time":"2025-07-08T08:44:36Z","timestamp":1751964276000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Diseases Mimicking Rheumatic Disorders: Insights From Southeastern Turkey"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9770-284X","authenticated-orcid":false,"given":"Ak\u00e7ahan","family":"Akal\u0131n","sequence":"first","affiliation":[{"name":"Department of Pediatric Genetics Diyarbakir Children's Hospital  Diyarbak\u0131r Turkey"},{"name":"Department of Pediatric Genetics Hacettepe University Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7064-6224","authenticated-orcid":false,"given":"Hatice Dilara","family":"Karaka\u015f","sequence":"additional","affiliation":[{"name":"Department of Pediatric Rheumatology Diyarbakir Children's Hospital  Diyarbak\u0131r Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7871-9005","authenticated-orcid":false,"given":"Canan","family":"\u00c7elebi","sequence":"additional","affiliation":[{"name":"Department of Radiology Diyarbakir Children's Hospital  Diyarbak\u0131r Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5727-4075","authenticated-orcid":false,"given":"H\u00fclya","family":"K\u00f6se","sequence":"additional","affiliation":[{"name":"Department of Pediatric Allergy and Immunology Diyarbakir Children's Hospital  Diyarbak\u0131r Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0582-8881","authenticated-orcid":false,"given":"Enise Avc\u0131","family":"Durmu\u015falio\u011flu","sequence":"additional","affiliation":[{"name":"Division of Pediatric Genetics, Department of Pediatrics School of Medicine, Ege University  Izmir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9928-3236","authenticated-orcid":false,"given":"Gizem","family":"\u00dcrel\u2010Demir","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Hacettepe University Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9558-3856","authenticated-orcid":false,"given":"Ruken","family":"Y\u0131ld\u0131r\u0131m","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology Diyarbakir Children's Hospital  Diyarbak\u0131r Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0657-2408","authenticated-orcid":false,"given":"Esra","family":"I\u015f\u0131k","sequence":"additional","affiliation":[{"name":"Division of Pediatric Genetics, Department of Pediatrics School of Medicine, Ege University  Izmir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7244-7766","authenticated-orcid":false,"given":"Pelin Ozlem Simsek","family":"Kiper","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Hacettepe University Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,7,8]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/keh557"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijpam.2018.01.004"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/00002281-200009000-00017"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12987"},{"key":"e_1_2_11_6_1","unstructured":"Bhavani G. 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