Manotas Hernan, Payán-Gómez César, Roa Maria Fernanda, Piñeros Juan Gabriel
Department of Pediatrics at Fundación Santa Fé de Bogotá, Hospital Universitario de la Fundacion Santa Fe de Bogota, Bogota, Colombia
Faculty of Natural Sciences, Universidad del Rosario, Bogota, Colombia.
BMJ Case Rep. 2021 May 24;14(5):e240601. 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.his626Lefus78 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.his627Leufs78, which is predicted to generate a truncated and/or protein decay of the RBM10 transcript.
马蹄内翻足、房间隔缺损、罗宾序列征和永存左上腔静脉（TARP）综合征是一种由RBBM10基因突变引起的先天性疾病。它在新生儿期患病率低且死亡率高。在本病例报告中，我们介绍了一例孕32周的早产新生儿，产前诊断为宫内生长受限，伴有永存左上腔静脉、房间隔交通和马蹄肾。此外，出生后诊断出视神经萎缩。通过外显子组测序，在RMB10基因中鉴定出致病变异c.1877del；p.his626Lefus78。由于医学文献中缺乏相关报道，该表型尚未得到充分描述。在此，我们报告一例患有TARP综合征且有先前未报道的突变c.1877del；p.his627Leufs78的患者，该突变预计会导致RBM10转录本产生截短和/或蛋白质降解。
