Miyake N, et al. A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome. Clin Genet, 2017. PMID: 28975623.

Stern D, et al. Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures. Clin Genet. 2017;92(2):221-223. PMID: 28111752.

Schuurs-Hoeijmakers JH, et al. Clinical delineation of the PACS1-related syndrome–Report on 19 patients. Am J Med Genet A. 2016;170(3):670-675. PMID: 26842493.

Gadzicki D, et al. Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability. Clin Genet. 2015;88(3):300-302. PMID: 25522177.

Deciphering Developmental Disorders (DDD) Study. Large-scale discovery of novel genetic causes of developmental disorders. Nature. 2015;519(7542):223-228. PMID:25533962.

Schuurs-Hoeijmakers JH, et al. Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. Am J Hum Genet. 2012;91(6):1122-7. PMID: 23159249.


Where can parents get more information about PACS1-related syndrome?

The following links contain useful information:

You may meet other patients with PACS1-related syndrome via the PACS1 Facebook group ( or, personally, during meetings dedicated to families with a child with PACS1-related syndrome.