Recurrent de novo mutation in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome

Original research article by J.H. Schuurs-Hoeijmakers et al. (2012).

Read the abstract here.

The researchers analyzed  genetic material from more than 5,000 people with intellectual disability. Of those 5,000, two were identified to have intellectual disability, similar differences in facial features, friendly dispositions, and a change in the PACS1 gene. Whole-exome sequencing of these people and their parents showed that the change was not passed down from either parent. These findings suggested that there may be an identifiable intellectual disability syndrome associated with changes in the PACS1 gene.