Article Text

Download PDFPDF
TARP syndrome associated with renal malformation and optic nerve atrophy
  1. Hernan Manotas1,
  2. César Payán-Gómez2,
  3. Maria Fernanda Roa3 and
  4. Juan Gabriel Piñeros1
  1. 1Department of Pediatrics at Fundación Santa Fé de Bogotá, Hospital Universitario de la Fundacion Santa Fe de Bogota, Bogota, Colombia
  2. 2Faculty of Natural Sciences, Universidad del Rosario, Bogota, Colombia
  3. 3Department of Pediatrics at Fundación Santa Fé de Bogotá, University Hospital of the Fundacion Santa Fe de Bogota, Bogota, Colombia
  1. Correspondence to Dr Hernan Manotas; h_manotas{at}hotmail.com

Abstract

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.

  • genetics
  • neonatal intensive care

Statistics from Altmetric.com

Footnotes

  • Contributors HM: literature search, article editing, medical behaviours, article writing. CP-G: literature search, article editing, article writing. MFR: article editing, medical behaviours, article writing. JGP: article editing, medical behaviours, article writing.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.