PACS1-related syndrome

What causes PACS1-related syndrome?

PACS1-related syndrome is caused by a specific change or mutation in the PACS1 gene. The PACS1 gene acts like a blueprint and tells cells how to make the PACS1 protein. The PACS1 protein is found in the membrane of the Golgi apparatus. The Golgi apparatus acts as the shipping and packing department of a cell. It modifies other proteins to prepare them to be shipped to other parts of the cell or outside of the cell. Scientists believe the job of the PACS1 protein is to help get proteins into and/or out of the Golgi apparatus. Scientists also know that cells make a lot more PACS1 protein during the development of the brain and make very little of the protein after birth. Scientists are working to understand how the ability of the PACS1 protein to do its job is changed in cells of people with PACS1-related syndrome.

Last updated on 05-01-20

How is PACS1-related syndrome diagnosed?

PACS1-related syndrome may be suspected when a doctor notices signs and symptoms that are commonly found in children or adults who have the syndrome, such as intellectual disability and mildly distinctive facial features. The diagnosis is confirmed by finding the specific change in the PACS1 __ gene through genetic testing. In many cases, the doctor may not initially suspect PACS1-related syndrome because the syndrome is so rare and most of the signs and symptoms are not unique to this syndrome. Therefore, PACS1-related syndrome is frequently diagnosed with a very broad genetic test called whole exome sequencing.

Last updated on 05-01-20

How is PACS1-related syndrome inherited?

PACS1-related syndrome is an autosomal dominant syndrome. This means that only one copy of the PACS1 __gene must be changed in each cell of the body in order for a person to have signs and symptoms of the syndrome. Remember, genes come in pairs (two copies) and one copy is inherited from each birth parent.

In every case of PACS1-related syndrome that has been found so far, the change in PACS1 gene is new and not found in either parent. This means that the genetic change was not passed down from either the mother or the father, but instead occurred for the first time (de novo) in the child who has the syndrome. In other words, the change in the PACS1 gene happened by mistake during the making of the egg or the sperm.

If two parents have a child who has PACS1-related syndrome and neither parent has the change in their own copies of the PACS1 gene, the chances that the parents will have another child with PACS1-related syndrome is less than 1%. People with PACS1-related syndrome have not been known to have children so far. Theoretically, if someone with the syndrome were to have children, there would be a 50% chance for each child to have PACS1-related syndrome as well.

Last updated on 05-01-20

Is there a map that shows where all of the known diagnosed cases of PACS1-related syndrome are located?

The PACS1 Families support group has created a Google map showing the known PACS1-related syndrome diagnosed cases from around the world.

Last updated on 05-01-20

What is the long-term outlook for people affected by PACS1-related syndrome?

Because PACS1-related syndrome is so rare, there is not a lot of information about the long-term outlook for children and adults with the syndrome. PACS1-related syndrome is not known to shorten a person’s lifespan. People with PACS1-related syndrome will likely need extra help in school, such as special education classes. They will also need to be monitored throughout their lives to make sure they do not develop any additional health issues.

Last updated on 05-01-20

How might PACS1-related syndrome be treated?

The treatment of PACS1-related syndrome depends on the signs and symptoms present in each person. When a child or adult is first diagnosed with PACS1-related syndrome, a number of tests and consultations may be recommended including:

  • Meeting with a dietician to discuss any feeding problems
  • EEG to assess if there are any seizures occurring
  • Brain MRI to look for any brain abnormalities
  • Consultation with an ophthalmologist to assess for any eye abnormalities
  • Ultrasound of heart and kidneys.

Although there is no cure for PACS1-related syndrome, there are treatment and therapy options that can help manage many of the signs and symptoms of the syndrome. Anti-epileptic medications can be used to help control seizures. Sometimes, children with PACS1-related syndrome may need feeding tubes to help them get enough nutrients. Children with PACS1-related syndrome may be recommended to be followed by a developmental pediatrician, and they may benefit from speech, physical, and occupational therapy. Some children and adults with PACS1-related syndrome are better able to communicate if they learn sign language or have an electronic device to help them communicate.

Last updated on 05-01-20

General Clinical Trials & Research

PACS1 Syndrome Research Foundation

The PACS1 Syndrome Research Foundation is a private foundation dedicated to finding a cure for PACS1 syndrome by actively funding innovative scientific research. The foundation has 2 founding trustees (parents of a child with PACS1 syndrome) who are also the donors. All funding decisions are scientifically validated and made by the founding trustees based on recommendations and consensus from their Scientific Advisory Team.

Last updated on 04-27-20

Parent And Caregiver Resources

PACS1 Smiles

The PACS1 Families has created a map of diagnosed cases around the world. Click on the link to view the map.

Last updated on 04-27-20

Where To Start

Simons Searchlight

The Simons Variation in Individuals Project is an online community that supports families with rare genetic changes (also called "genomic variants") associated with features of autism and developmental delay. Simons VIP Connect provides access to resources, information, and family support. They also provide an opportunity for families to participate in research. Click on the link to access information about the PACS1 gene.

Last updated on 04-27-20

Name: Simons Searchlight Toll Free: +1-855-329-5638 Fax : +1-570-214-7327 Email: Url:
Name: Unique G1 The Stables Station Road West
Oxted Surrey RH8 9EE
United Kingdom
Phone: +44(0)1883 723356 Email: Url:
Name: PACS1 Syndrome / Schuurs-Hoeijmakers Syndrome Awareness & Information Url:
Name: PACS1 Smiles Email: Url:

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