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Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism
Author(s) -
Johnston Jennifer J.,
Sapp Julie C.,
Curry Cynthia,
Horton Margaret,
Leon Eyby,
CusmanoOzog Kristina,
Dobyns William B.,
Hudgins Louanne,
Zackai Elaine,
Biesecker Leslie G.
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36212
Subject(s) - phenotype , mutation , genetics , sequence (biology) , clubfoot , persistent left superior vena cava , clinical phenotype , medicine , biology , gene , deformity , coronary sinus
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. © 2013 Wiley Periodicals, Inc.