Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures

Clin Genet. 2017 Aug;92(2):221-223. doi: 10.1111/cge.12956. Epub 2017 Jan 23.

Abstract

Graphical abstract key: ADHD, attention deficit hyperactivity disorder; ASD, atrial septal defect; DD, developmental delay; EEG, electroencephalogram; Ht, height; ID, intellectual disability; OCD, obsessive-compulsive disorder; OFC, open fontanelle; PDA, patent ductus arteriosis; PFO, patent foramen ovale; VSD, ventricular septal defect; Wt, weight.

Publication types

  • Letter

MeSH terms

  • Child
  • Child, Preschool
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Humans
  • Infant
  • Intellectual Disability / genetics*
  • Intellectual Disability / physiopathology
  • Male
  • Mutation, Missense / genetics
  • Seizures / genetics*
  • Seizures / physiopathology
  • Vesicular Transport Proteins / genetics*
  • Whole Exome Sequencing

Substances

  • PACS1 protein, human
  • Vesicular Transport Proteins