Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo <scp> <i>MEIS2</i> </scp> mutation: A clinical longitudinal study

Intellectual disability (ID) has an estimated prevalence of 1.5%–2%. Whole exome sequencing (WES) studies have identified a multitude novel causative gene defects and shown that sporadic ID cases result from de novo mutations in genes associated with ID. Here, we report on 10-year-old girl, who been regularly presented our neuropediatric genetic outpatient clinic. A median cleft palate heart defect were surgically corrected infancy. Apart ID, she behavioral anomalies, muscular hypotonia, scoliosis, hypermobile joints. The facial phenotype is characterized by arched eyebrows, mildly upslanting long palpebral fissures, prominent nasal tip, large, protruding ears. Trio WES revealed missense variant MEIS2 (c.998G>A; p.Arg333Lys). Haploinsufficiency had discussed as the most likely mechanism microdeletion 5q14-associated complex palate, defect. Recently, four including total 17 individuals intragenic variants reported. Here present evolution clinical compare data known individuals.