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Short\u2010rib thoracic dysplasias, previously known as Jeune asphyxiating thoracic dysplasia (ATD), stand out as the most prevalent and prototypical form of skeletal ciliopathies, often associated with semilethality. Recently, pathogenic variants in <jats:italic>GRK2<\/jats:italic>, a subfamily of mammalian G protein\u2010coupled receptor kinases, have been identified as one of the underlying causes of Jeune ATD. In this study, we report a new patient with Jeune ATD, in whom exome sequencing revealed a novel homozygous <jats:italic>GRK2<\/jats:italic> variant, and we review the clinical features and radiographic findings. In addition, our findings introduce Morgagni hernia and an organoaxial\u2010type rotation anomaly of the stomach and midgut malrotation for the first time in the context of this recently characterized <jats:italic>GRK2<\/jats:italic>\u2010related skeletal ciliopathy.<\/jats:p>","DOI":"10.1002\/ajmg.a.63629","type":"journal-article","created":{"date-parts":[[2024,4,22]],"date-time":"2024-04-22T13:33:05Z","timestamp":1713792785000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A novel <scp><i>GRK2<\/i><\/scp> variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia"],"prefix":"10.1002","volume":"194","author":[{"given":"Pelin \u00d6zlem","family":"\u015eim\u015fek\u2010Kiper","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Genetics Hacettepe University Faculty of Medicine  Ankara 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