Further evidence of involvement of ITSN1 in autosomal dominant neurodevelopmental disorder

Abstract

A 5-year-old affected male had following phenotypes: autism, motor stereotypy, developmental regression, staring gaze, absent speech, and behavioral abnormality. The biochemical testing was normal and genetic testing identified a de novo pathogenic variant in ITSN1 gene in the proband. To our knowledge, this is the second report that elucidates the role of ITSN1 gene in an autosomal dominant neurodevelopmental disorder.

Keywords: ITSN1; autism spectrum disorder; autosomal dominant or de novo variants; rare disease.