This study associates additional genetic variants in GATA4 and GATA5 with BAV, supporting the implication of these genes in the development of this valvulopathy.
Other candidate genes have been suggested based on the presence of BAV in knockout mouse models (e.g., <i>GATA5, NOS3</i>) or in syndromic (e.g., <i>TGFBR1/2, TGFB2/3</i>) or non-syndromic (e.g., <i>ACTA2</i>) TAA forms.
As a result, two novel heterozygous GATA5 mutations, p.Y16D and p.T252P, were identified in two families with autosomal dominant inheritance of BAV, respectively.
In the present study, the coding regions and splice junction sites of the GATA5 gene, which codes for a zinc-finger transcription factor crucial for the normal development of the aortic valve, was sequenced initially in 110 unrelated patients with BAV.