TARP syndrome associated with renal malformation and optic nerve atrophy

Hernan Manotas, Cesar Payan-Gomez, Maria Fernanda Roa, Juan Gabriel Piñeros

Resultado de la investigación: Contribución a una revistaArtículorevisión exhaustiva

Resumen

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.

Idioma originalInglés estadounidense
Número de artículoe240601
PublicaciónBMJ Case Reports
Volumen14
N.º5
DOI
EstadoPublicada - may 24 2021

All Science Journal Classification (ASJC) codes

  • Medicina (todo)

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