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Cardiac homeobox gene NKX2-5 mutations and congenital heart disease

Associations with atrial septal defect and hypoplastic left heart syndrome

David A. Elliott, PhD^*, Edwin P. Kirk, MBBS^*, Thomas Yeoh, MBBS^*, Suchitra Chandar, MBBS^*, Fiona McKenzie, MBBS, Peter Taylor, BAppSc, Paul Grossfeld, MD^||, Diane Fatkin, MD^*, Owen Jones, MBBS, Peter Hayes, MBBS^*, Michael Feneley, MD^* and Richard P. Harvey, PhD^*,*

^* Victor Chang Cardiac Research Institute, Sydney, Australia
Sydney Children’s Hospital, Sydney, Australia
University of New South Wales, Sydney, Australia
Hunter Genetics, Newcastle, Australia
^|| University of California at San Diego/Children’s Hospital, San Diego, California, USA

View larger version (46K): [in a new window]   Figure 1 Families with atrial septal defect (ASD) and NKX2-5 changes. (A) Family 1024, showing ASD and hypoplastic left heart syndrome (HLHS). NlaIII restriction enzyme analysis of polymerase chain reaction products (bottom) demonstrated that all affected and one unaffected individual (II-4) carried the C642T mutation. (B) Family AF1, showing ASD over three generations. Among affected individuals genotyped (I-2, II-2, III-2), only III-2 carried the C171G polymorphism. Sequence traces are shown. (C) Schematic representation of the NKX2-5 protein, showing functional domains and detected aa changes. TN = TN domain; HD = homeodomain; NK2SD = NK2-specific domain.