SMAD1 Loss-of-Function Variant Responsible for Congenital Heart Disease

Figure 1

Novel SMAD1 mutation underpinning familial congenital cardiac deformity. (a) Pedigree suffering from congenital heart deformities. Pedigree members are identified by generations and numbers. “⁺” Represents a carrier of the heterogeneous SMAD1 variation; “^–” means a noncarrier. (b) Sequence chromatogram traces illustrating the SMAD1 variation (in heterozygous status) from the index patient (mutant) and its wild-type control (in homozygous status) from a healthy family member (wild type). A rectangle symbol marks a genetic codon, with an arrow directing the nucleotide site where the mutation occurred. (c) Schemas describing the functional domains of SMAD1. NH2: amino-terminus; MAD: mothers against decapentaplegic; COOH: carboxyl-terminus.

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