Expanding the phenotype of a recurrent de novo variant in the PACS1 causing intellectual disability

Original research article by D. Gadzicki et al. (2015).

Read the abstract here.

The researchers found a person with a change in PACS1 who had not previously been identified. Much like the two people with a PACS1 gene change who had been identified in 2012, this child had intellectual disability, developmental delay, and other health issues. His change in PACS1 was the same as those in the people reported by Schuurs-Hoeijmakers et al. in 2012. This case provides additional evidence of a possible PACS1-associated genetic syndrome.