{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,2]],"date-time":"2025-06-02T09:30:07Z","timestamp":1748856607994},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T00:00:00Z","timestamp":1692835200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004047","name":"Karolinska Institutet","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004047","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006741","name":"Stiftelsen Frimurare Barnhuset i Stockholm","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006741","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009389","name":"Stiftelsen Promobilia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009389","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004359","name":"Vetenskapsr\u00e5det","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Skeletal ciliopathies are a heterogenous group of congenital disorders characterized by multiple internal abnormalities, and distinct radiographic presentation. Pathogenic variants in at least 30 cilia genes are known to cause skeletal ciliopathies. Here we report a fetus with an atypical skeletal ciliopathy phenotype and compound heterozygous variants in the <jats:italic>RAB34<\/jats:italic> gene. The affected fetus had multiple malformations, including posterior neck edema, micrognathia, low\u2010set and small ears, auricular hypoplasia, cleft lip and palate, short extremities, and a combination of rarely occurring pre\u2010 and postaxial polydactyly. Genome sequencing identified compound heterozygous variants in the <jats:italic>RAB34<\/jats:italic> gene: maternal c.254T&gt;C, p.(Ile85Thr), and paternal c.691C&gt;T, p.(Arg231*) variants. Only the paternal variant was present in the unaffected sibling. Evidence in the literature indicated that <jats:italic>Rab34<\/jats:italic><jats:sup><jats:italic>\u2212\/\u2212<\/jats:italic><\/jats:sup> mice displayed a ciliopathy phenotype with cleft palate and polydactyly. These features were consistent with malformations detected in our patient supporting the pathogenicity of the identified <jats:italic>RAB34<\/jats:italic> variants. Overall, this case report further expands genetic landscape of human ciliopathy syndromes and suggests <jats:italic>RAB34<\/jats:italic> as a candidate gene for skeletal ciliopathies.<\/jats:p>","DOI":"10.1111\/cge.14419","type":"journal-article","created":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T00:14:45Z","timestamp":1692922485000},"page":"87-91","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Compound heterozygous variants in <i>RAB34<\/i> in a rare skeletal ciliopathy syndrome"],"prefix":"10.1111","volume":"105","author":[{"given":"Dominyka","family":"Batkovskyte","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine and Surgery and Center for Molecular Medicine Karolinska Institutet  Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maya","family":"Komatsu","sequence":"additional","affiliation":[{"name":"Department of Gynecology and Obstetrics, Graduate School of Medicine Kyoto University  Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Hammarsj\u00f6","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery and Center for Molecular Medicine Karolinska Institutet  Stockholm Sweden"},{"name":"Department of Clinical Genetics Karolinska University Hospital  Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ritsuko","family":"Pooh","sequence":"additional","affiliation":[{"name":"Fetal Diagnostic Center CRIFM Prenatal Medical Clinic  Osaka Japan"},{"name":"Department of Clinical Research Ritz Medical Co., Ltd.  Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Osamu","family":"Shimokawa","sequence":"additional","affiliation":[{"name":"Department of Clinical Research Ritz Medical Co., Ltd.  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