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A retrospective genetic investigation was performed on DNA extracted from amniotic cell cultures previously used for cytogenetic studies.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Extracted DNA was used for aCGH (array comparative genomic hybridization) and Sanger sequencing. Parental blood samples were tested for karyotype (GTG \u2013 G-banding using trypsin and Giemsa) and molecular karyotype (aCGH). Additionally, paternal sample was tested by NGS (next generation sequencing).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We present two fetal cases of Raine syndrome. Both were compound heterozygotes for two\n                      <jats:italic>FAM20C<\/jats:italic>\n                      gene variants: a maternally-inherited copy-number loss encompassing exons 1-3 (arr[GRCh37] 7p22.3(170366_229852)x1) and a paternally-inherited novel frameshift exon 1 variant [NM_020223.4:c.307_308dupTC p.(Ser104ArgfsTer27)].\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Prenatal phenotype associated with Raine syndrome often includes characteristic pattern of intracranial calcification, osteosclerosis and facial dysmorphism. However, in majority of cases, diagnosis is made postnatally. It is therefore important to report all cases of Raine syndrome for which USS (ultrasound scan) findings are available \u2013 this will enable better understanding and detection of RS prenatally.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-026-04333-2","type":"journal-article","created":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T14:25:43Z","timestamp":1774621543000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel compound heterozygous FAM20C variants cause Raine syndrome \u2013 retrospective prenatal diagnosis and literature review"],"prefix":"10.1186","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6338-6874","authenticated-orcid":false,"given":"Ewelina","family":"Lazarczyk","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Pilarska-Deltow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Sowinska-Seidler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Repczynska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malgorzata","family":"Drozniewska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksander","family":"Jamsheer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agata","family":"Zdrojewska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Pasinska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Haus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,3,27]]},"reference":[{"key":"4333_CR1","doi-asserted-by":"publisher","first-page":"3155","DOI":"10.1002\/ajmg.a.36160","volume":"161A","author":"FK Ababneh","year":"2013","unstructured":"Ababneh FK, AlSwaid A, Youssef T, Azzawi MA, Crosby A, AlBalwi MA. Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome. Am J Med Genet A. 2013;161A:3155\u201360.","journal-title":"Am J Med Genet A"},{"key":"4333_CR2","doi-asserted-by":"publisher","first-page":"8039","DOI":"10.3390\/ijms22158039","volume":"22","author":"I Palma-Lara","year":"2021","unstructured":"Palma-Lara I, P\u00e9rez-Ram\u00edrez M, Alonso-Themann PG, Espinosa-Garc\u00eda AM, Godinez-Aguilar R, Bonilla-Delgado J, et al. FAM20C overview: classic and novel targets, pathogenic variants and Raine syndrome phenotypes. Int J Mol Sci. 2021;22:8039.","journal-title":"Int J Mol Sci"},{"key":"4333_CR3","doi-asserted-by":"publisher","first-page":"757","DOI":"10.1002\/jbmr.3034","volume":"32","author":"MP Whyte","year":"2017","unstructured":"Whyte MP, McAlister WH, Fallon MD, Pierpont ME, Bijanki VN, Duan S, et al. Raine syndrome (OMIM #259775), caused by FAM20C mutation, is congenital sclerosing osteomalacia with cerebral calcification (OMIM 259660). 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Written informed consent for participation in the research project was obtained from the patients and\/or their legal guardians.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent for clinical images and data publication was obtained from the patients and\/or their legal guardians.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"159"}}