A novel AUTS2 Variant in a Patient with Global Developmental Delay and Intellectual Disability.

AUTS2 haploinsufficiency causes a neurodevelopmental disorder known as AUTS2, which is characterized by global developmental delay, intellectual disability, autistic features, congenital brain anomalies, and other malformations. In this study, we report a case of AUST2 syndrome and describe the clinical manifestations and genetic etiology as well as provide a review of the literature. A 5-year-old girl presented with neurodevelopmental manifestations, skeletal features and dysmorphic features. Whole exome sequencing was carried out for the proband. A novel, heterozygous variant (c.1606C>T) in AUTS2 gene was identified. Sanger sequencing confirmed the presence of this variant in the affected girl; however, it was not detected in all family members. The identified variant is predicted to cause premature termination of the corresponding AUTS2 protein (p.Gln536*), which will likely lack the C-terminal domain of the protein. This study revealed a novel de novo loss-of-function variant in the AUTS2 gene and further expanded the phenotypic and genetic spectra of the AUTS2 syndrome. Moreover, this result might be helpful in genetic counseling for families with clinical phenotypes related to this syndrome. Further functional experiments are required to validate the impact of the identified variant. [ABSTRACT FROM AUTHOR]