{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,13]],"date-time":"2025-12-13T23:09:05Z","timestamp":1765667345516,"version":"3.44.0"},"reference-count":17,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,4,28]]},"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:p>Talipes equinovarus, atrial septal defect, Robin sequence and persistent left superior vena cava (TARP) syndrome is a congenital disease caused by mutations in the RBBM10 gene. It has a low prevalence and a high rate of mortality in the neonatal stage. In this case report, we present a case of a 32-week gestational age preterm newborn with a prenatal diagnosis of intrauterine growth restriction, with a persistent left superior vena cava, interatrial communication and a horseshoe kidney. Additionally, postnatal optic nerve atrophy was diagnosed. By using exome sequencing, the pathogenic variant c.1877del; p.his626Lefus*78 was identified in the RMB10 gene. Due to a lack of reports in the medical literature, the phenotype has not fully been described. Here, we report on a patient with TARP syndrome and a previously unreported mutation, c.1877del; p.his627Leufs*78, which is predicted to generate a truncated and\/or protein decay of the RBM10 transcript.<\/jats:p>","DOI":"10.1136\/bcr-2020-240601","type":"journal-article","created":{"date-parts":[[2021,5,24]],"date-time":"2021-05-24T11:56:01Z","timestamp":1621857361000},"page":"e240601","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["TARP syndrome associated with renal malformation and optic nerve atrophy"],"prefix":"10.1136","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0272-2341","authenticated-orcid":false,"given":"Hernan","family":"Manotas","sequence":"first","affiliation":[{"name":"Department of Pediatrics at Fundaci\u00f3n Santa F\u00e9 de Bogot\u00e1, Hospital Universitario de la Fundacion Santa Fe de Bogota, Bogota, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0633-1332","authenticated-orcid":false,"given":"C\u00e9sar","family":"Pay\u00e1n-G\u00f3mez","sequence":"additional","affiliation":[{"name":"Faculty of Natural Sciences, Universidad del Rosario, Bogota, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Fernanda","family":"Roa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics at Fundaci\u00f3n Santa F\u00e9 de Bogot\u00e1, University Hospital of the Fundacion Santa Fe de Bogota, Bogota, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan Gabriel","family":"Pi\u00f1eros","sequence":"additional","affiliation":[{"name":"Department of Pediatrics at Fundaci\u00f3n Santa F\u00e9 de Bogot\u00e1, Hospital Universitario de la Fundacion Santa Fe de Bogota, Bogota, 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