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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.
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