Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures

Original research article by D. Stern et al. (2017).

Read the abstract here.

This article used a Simons Foundation database to identify eight new people with PACS1-associated intellectual disability. These eight people carry the same de novo change in PACS1 as the 19 who were identified previously, and they have varying degrees of intellectual disability and developmental disability, as well as the now recognizable facial features. See the table below summarizing the findings reported in these articles.

Clinical Feature Number of Individuals with Feature Percentage (%)
Intellectual Disability/Developmental Delay 27/27 100
Abnormal speech 27/27 100
Differences in facial features 27/27 100
Seizures 17/27 63
Cardiac (Heart) Abnormalities 12/27 44
Autism Spectrum Disorder (ASD) 8/27 30


**Differences in facial features include but are not limited to:

  • Down-slanting palpebral fissures
  • Wide mouth
  • Thin upper lip
  • Prominent ears
  • Bulbous tip on nose
  • Arched eyebrows
  • Long eyelashes