PACS1 is a transport protein that mediates the localization and movement of other proteins along the trans-Golgi-network. The gene recognizes and binds to acidic clusters on target proteins to move them. The PACS1 protein forms abnormally stable cytoplasmic aggregates and impairs binding to allow the proteins to move correctly.
Children with PACS1 Syndrome have a very rare genetic condition caused by mutation of the PACS1 gene (p.Arg203Trp). It is not inherited from either parent (a “de novo” mutation) but it will be passed on to a patient’s child (“autosomal dominant”). The first two cases were identified in early 2011 by doctors in the Netherlands. As of September 2017, there are just 60 cases that have been identified worldwide. As the mutation is an exact replica in all children, the PACS1 families believe there are more children waiting to be diagnosed.
Diagnosis is typically done using full genome or exome sequencing. Both methods are expensive and not easily available. There are likely many more cases out there, that will eventually be reported as people learn about the condition, and testing becomes more affordable and available.The youngest child was diagnosed before he turned one, the oldest child was diagnosed in their 30’s.
Parents of PACS1 children have found that most of our children have similar facial features such as:
– Widely spaced eyes and low-set ears
– Down-slanting eye corners and mild uni-brow
– Highly arched eyebrows and long eyelashes
– Round “button” nose with a flat arch
– Thin upper lip
Other common traits the parents have seen:
– Low muscle tone (“floppy baby”)
– Seizures (usually short and sporadic)
– Repetitive stimulation (similar to Autism Spectrum Disorders)
– Sensory over/under sensitivity (similar to Autism Spectrum Disorders)
– Motor planning difficulties (affects movement and coordination)
– Delayed physical and cognitive development
– Chewing and swallowing diffculties
– Digestion and/or bowel problems
– Slower growth resulting in lower height and weight
In combination, these traits affect walking, talking, feeding, and learning skills. No impact on life expectancy has been found. Currently there is no single “cure”.
The parents of children with PACS1 created this site to provide information on this rare syndrome and to provide resources to newly diagnosed families. If you have any questions please contact a geneticist, your primary care physician or PACS1information@gmail.com