AUTHOR=Daicheng Han , Shiwen Xia , Jingxuan Zhang , Junbo Hu , Bo Wang 

TITLE=A Frameshift RBM10 Variant Associated With TARP Syndrome

JOURNAL=Frontiers in Genetics

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.922048

DOI=10.3389/fgene.2022.922048

ISSN=1664-8021

ABSTRACT=<p>TARP syndrome is a rare X-linked genetic condition caused by mutations in the <italic>RBM10</italic> gene. Primary clinical characteristics of TARP syndrome include Talipes equinovarus, Atrial septal defect, Robin sequence and Persistent left superior vena cava. Newly reported cases identified a few novel <italic>RBM10</italic> variants and atypical manifestations associated with TARP syndrome, thus expanding the genetic and clinical spectrum of TARP syndrome. Here we report a molecularly confirmed TARP syndrome with distinctive clinical features including pulmonary arteriovenous malformation, single umbilical artery, and coagulopathy. We identified a frameshift <italic>RBM10</italic> variant that might be associated with his distinctive clinical features.</p>