A <i>TMEM260</i> Biallelic Deletion Underlies Truncus Arteriosus.

ABSTRACT:

Introduction

Truncus arteriosus (TA) is a life-threatening cardiovascular anomaly involving a ventricular septal defect and a common ventricular outflow tract. Recently, biallelic variants in TMEM260 have been identified as causative for structural heart defects and renal anomalies syndrome (SHDRA, MIM 617478), which includes TA. Approximately 30 patients with SHDRA have been reported, but the genotype-phenotype correlation remains unclear. Founder variants have been identified in patients of East Asian and Ashkenazi Jewish ancestry.

Case presentation

The male infant, the third child of unrelated Japanese parents, was prenatally diagnosed with TA via detailed ultrasound examination. His older sister also had TA and died at 20 days of age. Despite intensive cardiorespi

SUBMITTER: Enomoto Y 

PROVIDER: S-EPMC12688340 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature