Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism

Am J Med Genet A. 2014 Jan;164A(1):120-8. doi: 10.1002/ajmg.a.36212. Epub 2013 Nov 20.

Abstract

The TARP syndrome (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistent left superior vena cava) is an X-linked disorder that was determined to be caused by mutations in RBM10 in two families, and confirmed in a subsequent case report. The first two original families were quite similar in phenotype, with uniform early lethality although a confirmatory case report showed survival into childhood. Here we report on five affecteds from three newly recognized families, including patients with atypical manifestations. None of the five patients had talipes and others also lacked cardinal TARP features of Robin sequence and atrial septal defect. All three families demonstrated de novo mutations, and one of the families had two recurrences, with demonstrable maternal mosaicism.

Keywords: RBM10; TARP.

Publication types

  • Case Reports
  • Research Support, N.I.H., Intramural

MeSH terms

  • Brain / pathology
  • Chromosome Aberrations
  • Clubfoot / diagnosis*
  • Clubfoot / genetics*
  • Exome
  • Facies
  • Fatal Outcome
  • Female
  • Genetic Association Studies
  • Heart Defects, Congenital / diagnosis*
  • Heart Defects, Congenital / genetics*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Infant
  • Infant, Newborn
  • Magnetic Resonance Angiography
  • Male
  • Mosaicism*
  • Mutation*
  • Phenotype*
  • Pierre Robin Syndrome / diagnosis*
  • Pierre Robin Syndrome / genetics*

Supplementary concepts

  • TARP syndrome