ASXL2

Molecular characteristics

The six individuals published to date had frameshift (5/6) or nonsense variants (1/6) that led to premature truncation of the full length transcript. Expression of wildtype and mutant transcripts was similar in the samples tested, which suggests that the mechanism of disease is unclear and could be dominant negative or gain-of-function. Diagnostic testing is by sequencing of the ASXL2 gene.