TARP syndrome associated with renal malformation and optic nerve atrophy.
BMJ Case Rep
; 14(5)2021 May 24.
Article
em En
| MEDLINE
| ID: mdl-34031074
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Pierre Robin
/
Pé Torto Equinovaro
/
Comunicação Interatrial
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Humans
/
Newborn
Idioma:
En
Revista:
BMJ Case Rep
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Colômbia