{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T07:49:20Z","timestamp":1753861760863,"version":"3.41.2"},"reference-count":21,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T00:00:00Z","timestamp":1698105600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001412","name":"Council of Scientific and Industrial Research, India","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001412","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001409","name":"Department of Science and Technology, Ministry of Science and Technology, India","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001409","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>CHST3\u2010related chondrodysplasia with congenital joint dislocations (CDCJD, #MIM 143095), is a rare genetic skeletal disorder caused by biallelic loss of function variants in <jats:italic>CHST3<\/jats:italic>. CHST3 is critical for the sulfation of chondroitin sulfate. This study delineates the clinical presentation of nine individuals featuring the key symptoms of CDCJD; congenital joint (knee and elbow) dislocations, short trunk short stature progressive vertebral anomalies, and metacarpal shortening. Additional manifestations include irregular distal femoral epiphysis, supernumerary carpal ossification centers, bifid humerus, club foot, and cardiac abnormalities. Sanger sequencing was carried out to investigate molecular etiology in eight patients and exome sequencing in one. Genetic testing revealed five homozygous variants in CHST3 (four were novel and one was previously reported). All these variants are located on sulfotransferase domain of CHST3 protein and were classified as pathogenic\/ likely pathogenic. We thus report on nine individuals with CHST3\u2010related chondrodysplasia with congenital joint dislocations from India and suggest monitoring the health of cardiac valves in this condition.<\/jats:p>","DOI":"10.1002\/ajmg.a.63422","type":"journal-article","created":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T06:15:33Z","timestamp":1698214533000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Indian patients with <scp>CHST3<\/scp>\u2010related chondrodysplasia with congenital joint dislocations"],"prefix":"10.1002","volume":"194","author":[{"given":"Swati","family":"Singh","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College, Manipal, Manipal Academy of Higher Education  Manipal Karnataka India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prince","family":"Jacob","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College, Manipal, Manipal Academy of Higher Education  Manipal Karnataka India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7154-3449","authenticated-orcid":false,"given":"Siddaramappa J.","family":"Patil","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospitals  Bangalore Karnataka India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mamta","family":"Muranjan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Genetic Division, Seth GS Medical College, King Edward Memorial Hospital  Mumbai Maharashtra India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hitesh","family":"Shah","sequence":"additional","affiliation":[{"name":"Department of Pediatric Orthopedics Kasturba Medical College, Manipal, Manipal Academy of Higher Education  Manipal Karnataka 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