A chromosomal rearrangement affecting ASXL2 is a pathogenic cause of Shashi-Pena syndrome in a Chinese family


  • A complex chromosomal derangement lowers mRNA expression of ASXL2 and leads to a rare autosomal-dominant neurodevelopmental syndrome, Shashi-Pena syndrome, in a Chinese family.

Why this matters

  • Although rare, ASXL2 mutations have been reported in humans with Shashi-Pena syndrome, the clinical features of which include neurologic and neurodevelopmental disorders.

  • This novel case study used long-read sequencing technologies which provide further strengths to traditional whole genome sequencing based on short-read sequencing. The findings expand the mutation spectrum of ASXL2 and support the use of nanopore sequencing for pathogenic analysis of complex rearrangements in the diagnosis of complex genetic diseases.