PACS1 syndrome (also known as Schuurs-Hoeijmakers Syndrome) is a rare neuro-genetic disorder caused by a mutation of the PACS1 gene. All children with PACS1 Syndrome have the same exact change in the PACS1 gene making it a unique and more easily curable disease. This specific change is called c.607C>T (NM_018026.3). DNA consists of four building blocks: A (adenine), C (cytosine), G (guanine), T (thymine). At building block 607 of the PACS1 gene, a cytosine is changed into a thymine. This results in the presence of a tryptophan (W) instead of an arginine (R) at position 203 in the PACS1 protein, i.e. within a region thought to be important for the function of the protein.
The expression of the PACS1 gene is significant both during embryonic development and after birth, in the brain and a variety of organs. (Ref: Simmons, 2005, Embo Journal)
Children with PACS1 syndrome will require life-long care. They have global developmental delays, intellectual disability, epilepsy, autism and significant language impairments, many individuals with PACS1 have limited speech.
PACS1 syndrome can be diagnosed through genetic testing (specifically full exome sequencing). To date there are approximately 110 cases known world-wide. With exome sequencing becoming more widely available there are likely to be many more cases identified.
For more information visit https://rarediseases.info.nih.gov/diseases/13043/pacs1-related-syndrome