Abstract
Congenital heart disease (CHD) is a malformation present from birth caused by the abnormal development of the heart and large blood vessels during the prenatal development. The TGF-β activated kinase 1 (MAP3K7) binding protein 2 (TAB2) gene plays an important role in the embryonic development of heart tissue. When haploid dosage is insufficient, it can lead to CHD or cardiomyopathy. The present study reported a case study of a Chinese child with growth restriction and CHD. The results of whole exome sequencing suggested that a novel frameshift mutation (c.1056delC/p.Ser353fsTer8) occurred in TAB2. The parents of this patient are wild-type at this locus; therefore, it may be a de novo mutation. The mutant plasmid was constructed in vitro, and the western blotting results showed that the mutation may cease protein expression. This indicated the pathogenic harmfulness of this mutation. In conclusion, the present study emphasizes that TAB2 defects should be investigated in patients with unexplained short stature and CHD, irrespective of family history regarding CHD or cardiomyopathy. The current study provided new data on the mutation spectrum and provided information for second pregnancies and genetic counseling of the parents of patients.