TY - JOUR
T1 - Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism
AU - Johnston, Jennifer J.
AU - Sapp, Julie C.
AU - Curry, Cynthia
AU - Horton, Margaret
AU - Leon, Eyby
AU - Cusmano-Ozog, Kristina
AU - Dobyns, William B.
AU - Hudgins, Louanne
AU - Zackai, Elaine
AU - Biesecker, Leslie G.
PY - 2014/1
Y1 - 2014/1
N2 - 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.
AB - 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.
KW - RBM10
KW - TARP
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U2 - 10.1002/ajmg.a.36212
DO - 10.1002/ajmg.a.36212
M3 - Article
C2 - 24259342
AN - SCOPUS:84890597273
SN - 1552-4825
VL - 164
SP - 120
EP - 128
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 1
ER -