TARP syndrome associated with renal malformation and optic nerve atrophy

• Published in: BMJ case reports 2021-05, Vol.14 (5), p.e240601
• Main Authors: Manotas, Hernan, Payán-Gómez, César, Roa, Maria Fernanda, Piñeros, Juan Gabriel
• Format: Article
• Language: English
• Subjects: Abdomen; Atrophy; Birth weight; Case Report; Case reports; Child & adolescent psychiatry; Clubfoot; Communication; Family medical history; Gestational age; Heart Defects, Congenital; Heart Septal Defects, Atrial; Humans; Hydronephrosis; Infant, Newborn; Infections; Intensive care; Medical screening; Mortality; Mutation; Neonatal care; Newborn babies; Optic nerve; Optic Nerve - diagnostic imaging; Ostomy; Patients; Pediatrics; Pierre Robin Syndrome; Proteins; RNA-Binding Proteins; Sepsis; Ultrasonic imaging; Vena Cava, Superior; Ventilators; X chromosomes
• ISSN: 1757-790X; 1757-790X
• DOI: 10.1136/bcr-2020-240601

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.