A Frameshift RBM10 Variant Associated With TARP Syndrome

Han Daicheng; Xia Shiwen; Zhang Jingxuan; Hu Junbo; Wang Bo

doi:10.3389/fgene.2022.922048

A Frameshift RBM10 Variant Associated With TARP Syndrome

Front Genet. 2022 Aug 4:13:922048. doi: 10.3389/fgene.2022.922048. eCollection 2022.

Authors

Han Daicheng¹, Xia Shiwen¹, Zhang Jingxuan², Hu Junbo³, Wang Bo⁴

Affiliations

¹ Department of Neonatology, Maternal and Child Health Hospital of Hubei Province, Wuhan, China.
² Hubei Key Laboratory of Embryonic Stem Cell Research School of Basic Medical Sciences, Hubei University of Medicine, Shiyan, China.
³ Department of Pathology, Maternal and Child Health Hospital of Hubei Province, Wuhan, China.
⁴ Department of Clinical Laboratory, Maternal and Child Health Hospital of Hubei Province, Wuhan, China.

Abstract

TARP syndrome is a rare X-linked genetic condition caused by mutations in the RBM10 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 RBM10 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 RBM10 variant that might be associated with his distinctive clinical features.

Keywords: RBM10; TARP; X-linked; coagulopathy; pulmonary arteriovenous malformation.