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Diseases

Genetic and Rare Diseases Information Center (GARD)

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TARP syndrome


Other Names for this Disease
  • Pierre Robin syndrome with congenital heart malformation and clubfoot
  • Talipes equinovarus, atrial septal defect, robin sequence, and persistence of left superior vena cava
  • TARPS
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Cause


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What causes TARP syndrome?

TARP syndrome is a genetic condition caused by mutations in the RBM10 gene, which is located on the X chromosome. There is little information available about how mutations in this gene specifically cause TARP syndrome. However, in 2010 researchers showed that the RBM10 gene is expressed in mouse embryos in the branchial arches (embryonic structures that give rise to parts of the head and neck) and limbs, which is consistent with body parts known to be affected in individuals with TARP syndrome. The signs and symptoms of TARP syndrome occur when this gene does not function correctly.[1]
Last updated: 12/6/2013

References
  1. Marla J. F. O'Neill. TARP syndrome; TARPS. OMIM. June 21, 2010; http://omim.org/entry/311900. Accessed 12/6/2013.