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Agenesis of the Inferior Vena Cava in H Syndrome Due to a Novel SLC 29A3 Mutation
Author(s) -
Mutlu Gül Yesiltepe,
Ramot Yuval,
Babaoglu Kadir,
Altun Gurkan,
Zlotogorski Abraham,
MolhoPessach Vered
Publication year - 2013
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.12085
Subject(s) - medicine , nonsense mutation , mutation , agenesis , inferior vena cava , nonsense , girl , vena cava , radiology , surgery , gene , genetics , missense mutation , biology
We present a 10‐year‐old girl with typical clinical features of H syndrome. Complete agenesis of the inferior vena cava was found on echocardiography and radiologic studies. Mutation analysis of the SLC 29A3 gene revealed a novel nonsense mutation. This unique case extends the clinical and mutation spectrum associated with H syndrome and underlines the importance of routine cardiac screening in this disorder.