A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in RBM10.

ABSTRACT: TARP syndrome (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistence of the left superior vena cava) is a rare genetic condition, caused by developmental defects during embryogenesis. The phenotypic spectrum of TARP shows high clinical variability with patients either missing cardinal features or having additional clinical traits. Initially, TARP was considered a lethal syndrome, but patients with milder symptoms were recently described. The TARP-locus was mapped to the gene RNA-binding motif protein 10 (RBM10) on the human X-chromosome. We clinically and genetically described a six-year-old boy with a TARP-phenotype. Clinical heterogeneity of symptoms prompted us to sequence the entire exome of this patient. We identified a novel splice variant (NM_005676: c.17

SUBMITTER: Owczarek-Lipska M 

PROVIDER: S-EPMC9691016 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature