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Our analysis focused on a panel of 442 genes previously associated with intestinal development, malrotation, ciliopathies and\/or situs abnormalities.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      In one male patent we discovered two heterozygous variants in\n                      <jats:italic>TTC7A<\/jats:italic>\n                      , c.433G\u2009&gt;\u2009A p.(Ala145Thr) and c.1057G\u2009&gt;\u2009A p.(Glu353Lys). Carrier testing revealed that he inherited both variants from his mother with a mild intestinal rotation abnormality. Additionally, we identified inherited variants in two other male participants, c.1802 A\u2009&gt;\u2009T p.(Asp601Val) in\n                      <jats:italic>ROCK2<\/jats:italic>\n                      and, c.884 G\u2009&gt;\u2009A p.(Arg295His) in\n                      <jats:italic>LIMK2<\/jats:italic>\n                      . These genes are part of a shared signaling pathway previously shown to cause intestinal malrotation in Xenopus when inhibited.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Our findings suggest the potential involvement of\n                      <jats:italic>TTC7A<\/jats:italic>\n                      ,\n                      <jats:italic>ROCK2<\/jats:italic>\n                      and\n                      <jats:italic>LIMK2-genes<\/jats:italic>\n                      in the pathogenesis of intestinal malrotation; through the ROCK-signaling pathway.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s00383-026-06442-2","type":"journal-article","created":{"date-parts":[[2026,5,25]],"date-time":"2026-05-25T15:18:03Z","timestamp":1779722283000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Rare variants in TTC7A, ROCK2 and LIMK2 suggest a role for the ROCK-signaling pathway in isolated intestinal malrotation"],"prefix":"10.1007","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2721-0844","authenticated-orcid":false,"given":"Karin","family":"Salehi Karlsl\u00e4tt","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3120-1625","authenticated-orcid":false,"given":"Maria","family":"Pettersson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9848-0468","authenticated-orcid":false,"given":"Kristina","family":"Lagerstedt-Robinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulla","family":"Ullberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0806-5602","authenticated-orcid":false,"given":"Anna","family":"Lindstrand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6638-4631","authenticated-orcid":false,"given":"Agneta","family":"Nordenskj\u00f6ld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,5,25]]},"reference":[{"issue":"4","key":"6442_CR1","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1053\/j.sempedsurg.2003.08.009","volume":"12","author":"D Kluth","year":"2003","unstructured":"Kluth D, Jaeschke-Melli S, Fiegel H (2003) The embryology of gut rotation. 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