PACS1 syndrome (also known as Schuurs-Hoeijmakers Syndrome) is a rare neuro-genetic disorder caused by a mutation of the PACS1 gene. 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)
All children with PACS1 syndrome who have been diagnosed to date have global developmental delays and mild to moderate degrees of intellectual disability. Language is more severely affected than motor development, and many individuals with PACS1 have limited speech. Other typical features include congenital abnormalities, seizures, oral aversion and feeding difficulties. Individuals living with PACS1 syndrome will currently require life-long care.
PACS1 syndrome can be diagnosed through genetic testing (specifically full exome sequencing). To date there are approximately 60 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