De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies

Original research article by D.L. Dinwiddie et al. (2013).

Read the abstract here.

This case report describes a 6-year-old girl who has a change in ASXL3 identified through whole-exome sequencing. Features believed to be associated with her ASXL3 change were speech delay and developmental delays.

The researchers propose that changes in the ASXL3 gene are the cause of a newly recognized syndrome characterized by severe global developmental delay, being shorter than average (short stature), a smaller-than-average head size (microcephaly), and differences in facial features.