{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,28]],"date-time":"2026-03-28T04:37:15Z","timestamp":1774672635904,"version":"3.50.1"},"reference-count":70,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2020,2,20]],"date-time":"2020-02-20T00:00:00Z","timestamp":1582156800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003069","name":"Instituto Polit\u00e9cnico Nacional","doi-asserted-by":"publisher","award":["SIP 20181039 and SIP-N\u00ba20194914"],"award-info":[{"award-number":["SIP 20181039 and SIP-N\u00ba20194914"]}],"id":[{"id":"10.13039\/501100003069","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Two siblings from a Mexican family who carried lethal Raine syndrome are presented. A newborn term male (case 1) and his 21 gestational week brother (case 2), with a similar osteosclerotic pattern: generalized osteosclerosis, which is more evident in facial bones and cranial base. Prenatal findings at 21 weeks and histopathological features for case 2 are described. A novel combination of biallelic FAM20C pathogenic variants were detected, a maternal cytosine duplication at position 456 and a paternal deletion of a cytosine in position 474 in exon 1, which change the reading frame with a premature termination at codon 207 and 185 respectively. These changes are in concordance with a negative detection of the protein in liver and kidney as shown in case 2. Necropsy showed absence of pancreatic Langerhans Islets, which are reported here for the first time. Corpus callosum absence is added to the few reported cases of brain defects in Raine syndrome. This report shows two new FAM20C variants not described previously, and negative protein detection in the liver and the kidney. We highlight that lethal Raine syndrome is well defined as early as 21 weeks, including mineralization defects and craniofacial features. Pancreas and brain defects found here in FAM20C deficiency extend the functional spectrum of this protein to previously unknown organs.<\/jats:p>","DOI":"10.3390\/genes11020222","type":"journal-article","created":{"date-parts":[[2020,2,25]],"date-time":"2020-02-25T08:12:22Z","timestamp":1582618342000},"page":"222","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Two Novel FAM20C Variants in a Family with Raine Syndrome"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0848-2927","authenticated-orcid":false,"given":"Araceli","family":"Hern\u00e1ndez-Zavala","sequence":"first","affiliation":[{"name":"Laboratory of Cellular and Molecular Morphology, Section of Postgraduate Studies and Research, Escuela Superior de Medicina, Instituto Polit\u00e9cnico Nacional, Salvador D\u00edaz Mir\u00f3n esq. Plan de San Luis S\/N, Miguel Hidalgo, Casco de Santo Tomas, Mexico City 11340, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-6697-546X","authenticated-orcid":false,"given":"Fernando","family":"Cort\u00e9s-Camacho","sequence":"additional","affiliation":[{"name":"Laboratory of Cellular and Molecular Morphology, Section of Postgraduate Studies and Research, Escuela Superior de Medicina, Instituto Polit\u00e9cnico Nacional, Salvador D\u00edaz Mir\u00f3n esq. Plan de San Luis S\/N, Miguel Hidalgo, Casco de Santo Tomas, Mexico City 11340, Mexico"},{"name":"Direction and Division of Research, Hospital Ju\u00e1rez de M\u00e9xico, Av. Instituto Polit\u00e9cnico Nacional 5160, Magdalena de las Salinas, Gustavo A. Madero, Mexico City 07760, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Icela","family":"Palma-Lara","sequence":"additional","affiliation":[{"name":"Laboratory of Cellular and Molecular Morphology, Section of Postgraduate Studies and Research, Escuela Superior de Medicina, Instituto Polit\u00e9cnico Nacional, Salvador D\u00edaz Mir\u00f3n esq. Plan de San Luis S\/N, Miguel Hidalgo, Casco de Santo Tomas, Mexico City 11340, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ricardo","family":"God\u00ednez-Aguilar","sequence":"additional","affiliation":[{"name":"Direction and Division of Research, Hospital Ju\u00e1rez de M\u00e9xico, Av. Instituto Polit\u00e9cnico Nacional 5160, Magdalena de las Salinas, Gustavo A. Madero, Mexico City 07760, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Mar\u00eda","family":"Espinosa","sequence":"additional","affiliation":[{"name":"Service of Clinical Pharmacology, Hospital General de M\u00e9xico, Dr. Balmis 148, Doctores, Cuauht\u00e9moc, Mexico City 06720, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Javier","family":"P\u00e9rez-Dur\u00e1n","sequence":"additional","affiliation":[{"name":"National Institute of Perinatology, Calle Montes Urales 800, Lomas - Virreyes, Lomas de Chapultepec IV Section, Miguel Hidalgo, Mexico City 11000, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"Villanueva-Ocampo","sequence":"additional","affiliation":[{"name":"Deparment of Ginecology, Hospital Ju\u00e1rez de M\u00e9xico, Av. Instituto Polit\u00e9cnico Nacional 5160, Magdalena de las Salinas, Gustavo A. Madero, Mexico City 07760, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos","family":"Ugarte-Briones","sequence":"additional","affiliation":[{"name":"Department of Pathology, Hospital Ju\u00e1rez de M\u00e9xico, Av. Instituto Polit\u00e9cnico Nacional 5160, Magdalena de las Salinas, Gustavo A. Madero, Mexico City 07760, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos Alberto","family":"Serrano-Bello","sequence":"additional","affiliation":[{"name":"Department of Pathology, Hospital Ju\u00e1rez de M\u00e9xico, Av. Instituto Polit\u00e9cnico Nacional 5160, Magdalena de las Salinas, Gustavo A. Madero, Mexico City 07760, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paula Jes\u00fas","family":"S\u00e1nchez-Santiago","sequence":"additional","affiliation":[{"name":"Department of Pathology, Hospital Ju\u00e1rez de M\u00e9xico, Av. Instituto Polit\u00e9cnico Nacional 5160, Magdalena de las Salinas, Gustavo A. Madero, Mexico City 07760, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9690-1940","authenticated-orcid":false,"given":"Jos\u00e9","family":"Bonilla-Delgado","sequence":"additional","affiliation":[{"name":"Direction and Division of Research, Hospital Ju\u00e1rez de M\u00e9xico, Av. Instituto Polit\u00e9cnico Nacional 5160, Magdalena de las Salinas, Gustavo A. Madero, Mexico City 07760, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco Antonio","family":"Y\u00e1\u00f1ez-L\u00f3pez","sequence":"additional","affiliation":[{"name":"Department of Radiology &amp; Imagenology, Hospital Ju\u00e1rez de M\u00e9xico, Av. Instituto Polit\u00e9cnico Nacional 5160, Magdalena de las Salinas, Gustavo A. Madero, Mexico City 07760, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georgina","family":"Victoria-Acosta","sequence":"additional","affiliation":[{"name":"Direction and Division of Research, Hospital Ju\u00e1rez de M\u00e9xico, Av. Instituto Polit\u00e9cnico Nacional 5160, Magdalena de las Salinas, Gustavo A. Madero, Mexico City 07760, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adolfo","family":"L\u00f3pez-Ornelas","sequence":"additional","affiliation":[{"name":"Direction and Division of Research, Hospital Ju\u00e1rez de M\u00e9xico, Av. Instituto Polit\u00e9cnico Nacional 5160, Magdalena de las Salinas, Gustavo A. Madero, Mexico City 07760, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"Garc\u00eda Alonso-Themann","sequence":"additional","affiliation":[{"name":"National Institute of Perinatology, Calle Montes Urales 800, Lomas - Virreyes, Lomas de Chapultepec IV Section, Miguel Hidalgo, Mexico City 11000, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8887-6087","authenticated-orcid":false,"given":"Jos\u00e9","family":"Moreno","sequence":"additional","affiliation":[{"name":"Direction and Division of Research, Hospital Ju\u00e1rez de M\u00e9xico, Av. Instituto Polit\u00e9cnico Nacional 5160, Magdalena de las Salinas, Gustavo A. Madero, Mexico City 07760, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8392-859X","authenticated-orcid":false,"given":"Carmen","family":"Palacios-Reyes","sequence":"additional","affiliation":[{"name":"Direction and Division of Research, Hospital Ju\u00e1rez de M\u00e9xico, Av. Instituto Polit\u00e9cnico Nacional 5160, Magdalena de las Salinas, Gustavo A. Madero, Mexico City 07760, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,2,20]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"786","DOI":"10.1136\/jmg.26.12.786","article-title":"Unknown syndrome: Microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis","volume":"26","author":"Raine","year":"1989","journal-title":"J. Med. 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