{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T20:03:11Z","timestamp":1792612991831,"version":"4.5.0"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,1,17]],"date-time":"2021-01-17T00:00:00Z","timestamp":1610841600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    <jats:italic>RIPPLY2<\/jats:italic>\n                    is an essential part of the formation of somite patterning during embryogenesis and in establishment of rostro\u2010caudal polarity. Here, we describe three individuals from two families with compound\u2010heterozygous variants in\n                    <jats:italic>RIPPLY2<\/jats:italic>\n                    (NM_001009994.2): c.238A\u2009&gt;\u2009T, p.(Arg80*) and c.240\u20104 T\u2009&gt;\u2009G, p.(?), in two 15 and 20\u2010year\u2010old sisters, and a homozygous nonsense variant, c.238A\u2009&gt;\u2009T, p.(Arg80*), in an 8\u2009year old boy. All patients had multiple vertebral body malformations in the cervical and thoracic region, small or absent rib involvement, myelopathies, and common clinical features of\n                    <jats:italic>SCDO6<\/jats:italic>\n                    including scoliosis, mild facial asymmetry, spinal spasticity and hemivertebrae. The nonsense variant can be classified as likely pathogenic based on the ACMG criteria while the splice variants must be classified as a variant of unknown significance. With this report on two further families, we confirm\n                    <jats:italic>RIPPLY2<\/jats:italic>\n                    as the gene for SCDO6 and broaden the phenotype by adding myelopathy with or without spinal canal stenosis and spinal spasticity to the symptom spectrum.\n                  <\/jats:p>","DOI":"10.1111\/cge.13916","type":"journal-article","created":{"date-parts":[[2021,1,10]],"date-time":"2021-01-10T08:55:03Z","timestamp":1610268903000},"page":"565-571","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Congenital cervical spine malformation due to bi\u2010allelic\n                    <scp>RIPPLY2<\/scp>\n                    variants in spondylocostal dysostosis type 6"],"prefix":"10.1111","volume":"99","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8235-9441","authenticated-orcid":false,"given":"Meret","family":"Wegler","sequence":"first","affiliation":[{"name":"Department of Human Genetics University of Leipzig  Leipzig Saxony Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Roth","sequence":"additional","affiliation":[{"name":"Division of Pediatric Radiology University Hospital Leipzig  Leipzig Saxony Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eckehard","family":"Schumann","sequence":"additional","affiliation":[{"name":"Department of Orthopedic, Trauma and Plastic Surgery University Hospital Leipzig  Leipzig Saxony Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jillene","family":"Kogan","sequence":"additional","affiliation":[{"name":"Centre of Medical Genetics Advocate Medical Group  Park Ridge Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen","family":"Totten","sequence":"additional","affiliation":[{"name":"Centre of Medical Genetics Advocate Medical Group  Park Ridge Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria J.","family":"Guillen Sacoto","sequence":"additional","affiliation":[{"name":"GeneDx  Gaithersburg Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rami","family":"Abou Jamra","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University of Leipzig  Leipzig Saxony Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frauke","family":"Hornemann","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology University Hospital for Children and Adolescents  Leipzig Saxony Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,1,17]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu534"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61549"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jemermed.2018.09.044"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37263"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.brs.0000239222.36505.46"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.148"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2018.2941"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22844"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2007.05.017"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.21342"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2010.03.015"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0107928"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2013.05.020"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.wneu.2017.01.048"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-319-89512-3_13"}],"container-title":["Clinical 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