HAND2 and ventricular septal defect: By sequence analysis of the HAND2 gene in 192 unrelated patients with CHD, a substitution of thymine for guanine in the second nucleotide of codon 65 (c.194G > T), predicting the transition of serine to isoleucine at amino acid position 65 (p.S65I), was detected in a patient with congenital subaortic ventricular septal defect (VSD) and a positive family history of CHD.