Gene expression data analysis of DS patients without CHD, and DS patients with AVSD revealed the involvement of miR-518a, miR-518e, miR-518f, miR-528a and miR-96 in the pathogenesis of AVSD in DS patients, potentially by targeting AUTS2 (autism susceptibility candidate 2) and KIAA2022 (a.k.a. X-linked mental retardation protein) [110]. The gene discussed is AUTS2; the disease is familial atrioventricular septal defect.