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

Jennifer J. Johnston, Julie C. Sapp, Cynthia Curry, Margaret Horton, Eyby Leon, Kristina Cusmano-Ozog, William B. Dobyns, Louanne Hudgins, Elaine Zackai, Leslie G. Biesecker

Research output: Contribution to journalArticlepeer-review

16 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)120-128
Number of pages9
JournalAmerican Journal of Medical Genetics, Part A
Volume164
Issue number1
DOIs
StatePublished - Jan 2014
Externally publishedYes

Keywords

  • RBM10
  • TARP

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