AMOTL1 De Novo Mutation Associated with Orofacial Clefting, Ocular Colobomas, an Atrial Septal Defect and Digital Anomalies: A Case Report and Review of the Literature

Abstract

AMOTL1 is a membrane associated protein that has been described in 3 previous case reports involving craniofacial, cardiac, and musculoskeletal abnormalities. We present the fifth case of similar abnormalities associated with an AMOTL1 mutation. This patient is a two-year-old female with cleft lip and palate, left postaxial foot polydactyly, an atrial septal defect, unilateral iris and chorioretinal colobomas, facial dysmorphisms and speech delay. She was found to have a mutation in AMOTL1 (c.470G>A, p.(R157H). This report suggests a broad range of congenital defects associated with mutations in AMOTL1, and indicates the need to further characterize these mutations, with the goal of facilitating better screening and management of such patients.