{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T15:45:00Z","timestamp":1786117500893,"version":"build-2736575974"},"reference-count":13,"publisher":"Walter de Gruyter GmbH","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,4,24]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2025-0643_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      Mosaic variegated aneuploidy syndrome 2 (MVA2) is an uncommon autosomal recessive genetic condition caused by mutations in the\n                      <jats:italic>CEP57<\/jats:italic>\n                      gene. It is characterized by intrauterine growth restriction, severe short stature, facial dysmorphism, and skeletal abnormalities. Most affected individuals also show congenital cardiac defects and delayed development. To date, only 16 patients have been reported.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0643_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      We report a 6-year-old girl of consanguineous Moroccan parents, presenting with severe short stature, clinodactyly, and dysmorphic facial features including prominent forehead, triangular face, micro-retrognathia, and low set ears. Neurodevelopment was initially normal, but mild intellectual disability was then noted. Genetic testing including karyotype, array-CGH, and Silver\u2013Russell syndrome were normal. Finally, whole exome sequencing revealed a homozygous c.834_844dupCAATGTTCAGC variant in\n                      <jats:italic>CEP57<\/jats:italic>\n                      , classified as likely pathogenic. Familial segregation confirmed heterozygosity in both parents and siblings.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0643_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      This report describes a novel homozygous variant of\n                      <jats:italic>CEP57<\/jats:italic>\n                      , expanding the clinical and genetic spectrum of MVA2 syndrome. Although, karyotype should be firstly requested if MVA is suspected, whole exome sequencing is crucial. Growth hormone therapy shows limited response in this syndrome, and the association with cancer predisposition should be further studied.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2025-0643","type":"journal-article","created":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T09:03:17Z","timestamp":1771318997000},"page":"381-387","source":"Crossref","is-referenced-by-count":0,"title":["A novel\n                    <i>CEP57<\/i>\n                    gene mutation in mosaic variegated aneuploidy syndrome 2: case report"],"prefix":"10.1515","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-3362-9596","authenticated-orcid":false,"given":"Cristina Pellicer","family":"Viudes","sequence":"first","affiliation":[{"name":"Department of Pediatrics , Hospital Comarcal de Vinaroz , Vinaroz , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda","family":"Mans\u00f3 Borr\u00e1s","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (Endocrinology) , Hospital Universitario y Polit\u00e9cnico La Fe , Valencia , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susana","family":"Enrique Madrid","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Hospital Comarcal de Vinaroz , Vinaroz , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berta","family":"Diago Garc\u00eda","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Hospital Comarcal de Vinaroz , Vinaroz , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Armando Carlos","family":"Maruenda Jim\u00e9nez","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Hospital Comarcal de Vinaroz , Vinaroz , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Guzm\u00e1n Tena","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Hospital Comarcal de Vinaroz , Vinaroz , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Leticia","family":"V\u00e1zquez \u00c1lvarez","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Hospital Comarcal de Vinaroz , Vinaroz , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"Ca\u00f1adas Olmo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Hospital Comarcal de Vinaroz , Vinaroz , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dolores T\u00edo","family":"Guillam\u00f3n","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Hospital Comarcal de Vinaroz , Vinaroz , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Amparo","family":"Edo Tena","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Hospital Comarcal de Vinaroz , Vinaroz , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edurne","family":"Novella-Maestre","sequence":"additional","affiliation":[{"name":"Department of Genetics , Hospital Universitario y Polit\u00e9cnico La Fe , Valencia , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Purificaci\u00f3n","family":"Mar\u00edn Reina","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (Dysmorphology) , Hospital Universitario y Polit\u00e9cnico La Fe , Valencia , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,2,16]]},"reference":[{"key":"2026080613594062804_j_jpem-2025-0643_ref_001","doi-asserted-by":"crossref","unstructured":"Frattini, A, Micheloni, G, Musio, A, Antunes, MB, Barbot, J, Costa, E, et al.. A distinctive type of mosaic variegated aneuploidy: case report and review of the literature. Am J Med Genet 2025;197. https:\/\/doi.org\/10.1002\/ajmg.a.63901.","DOI":"10.1002\/ajmg.a.63901"},{"key":"2026080613594062804_j_jpem-2025-0643_ref_002","doi-asserted-by":"crossref","unstructured":"Pinson, L, Mannini, L, Willems, M, Cucco, F, Sirvent, N, Frebourg, T, et al.. CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome. Am J Med Genet 2014;164A:177\u201381. https:\/\/doi.org\/10.1002\/ajmg.a.36166.","DOI":"10.1002\/ajmg.a.36166"},{"key":"2026080613594062804_j_jpem-2025-0643_ref_003","doi-asserted-by":"crossref","unstructured":"Nakano, Y, Kuiper, RP, Nichols, KE, Porter, CC, Lesmana, H, Meade, J, et al.. Update on recommendations for cancer screening and surveillance in children with genomic instability disorders. 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