About PACS1

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 62 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

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12 thoughts on “About PACS1

  1. My sister Madison was born with pacs1 in 2014 and only less then 20 kids was known with it .The doctors did not know what to do or anything and we was just so worried about will she live and then the doctor said that it can not kill people that just took and big relief off of me .Kids with pacs1 are just like other they are so funny and very happy and so thankful to be here today


  2. My son was diagnosed several years ago. He also has CHARGE syndrome. We live in Texas and would like to connect with other families in this unique adventure in life.
    Looking forward to hearing back


      • Bonjour.nous habitons en France et mon fils de 2 ans à été diagnostique il y a quelques jours.j’ai beaucoup de mal à accepter cette maladie car elle soulève à nouveau bon nombre d’angoisse.comment cela se passe pour votre fils? Quelles thérapies ont été mises en Place? Je suis désolée avec mes questions je suis encore sous le choc de la nouvelle.


  3. Hello
    I am a proud grandma of a beautiful almost 3 year old that is a chromosome 11 deletion at 13.2
    We have just found information on pacs1 and have yet to be diagnosed but do feel we are finally going in the right direction !
    We live near Orlando Florida and are very excited to know more about the pacs1 family.
    Audrey and I can be reached at sclark7@ CFL.rr.com
    We welcome reading your stories of your unique children and finding out as much as we can about pacs1.
    God bless our children and those who work so hard to raise these beautiful kids!


    • My daughter was just diagnosed today of the chromosome 11 deletion at 13.2. We live in Kissimmee, Florida. She just turned 5 in March.


  4. Hallo 🙂
    Unsere Tochter Nele ist 6 Jahre alt und wurde am 10.02.17 diagnostiziert. Wir sind schon ganz herzlich in der PACS1 Facebook Gruppe aufgenommen worden. Vielleicht gibt es ja noch Betroffene aus Deutschland, die kein Facebook haben und hier “gelandet” sind. Gerne könnt ihr uns kontaktieren!


    • Peguei o teste genético do meu filho , e deu como resumo ” uma variante provavelmente patogênica no gene PACS1″, esse artigo mostra algumas das características que meu filho tem, estou muito tranquila, mais gostaria de conversar com pais que tenham crianças com essa síndrome.


  5. Wow!! After reading the information on pacs1 it was like reading about my daughter. It’s quite an exciting thought that maybe after 4 years there’s a glimmer of hope. I’m not sure how easy it is to request a test but I will be asking.


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