Key result
A novel frameshift RBM10 variant (c.1113_1119del) was identified in a newborn with TARP syndrome who presented with atypical features including pulmonary arteriovenous malformation and coagulopathy.
Case Report (n=1)
No
This case expands the genetic and clinical spectrum of TARP syndrome by associating a frameshift RBM10 variant with novel atypical manifestations.
May prompt TARP syndrome consideration with neonatal AVM; extends RBM10 spectrum yet leaves generalizability open.
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.
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Daicheng et al. (2022) conducted a case report in TARP syndrome (n=1). Frameshift RBM10 variant (c.1113_1119del) was evaluated on Clinical presentation and genetic diagnosis. A novel frameshift RBM10 variant (c.1113_1119del) was identified in a newborn with TARP syndrome who presented with atypical features including pulmonary arteriovenous malformation and coagulopathy.
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