title: Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures.
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.
authors.affiliation: Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.
authors.forename: D
authors.initials: D
authors.lastname: Stern
authors.affiliation: GeneDx, Gaithersburg, MD, USA.
authors.forename: M T
authors.initials: MT
authors.lastname: Cho
authors.affiliation: GeneDx, Gaithersburg, MD, USA.
authors.forename: R
authors.initials: R
authors.lastname: Chikarmane
authors.affiliation: GeneDx, Gaithersburg, MD, USA.
authors.forename: R
authors.initials: R
authors.lastname: Willaert
authors.affiliation: GeneDx, Gaithersburg, MD, USA.
authors.forename: K
authors.initials: K
authors.lastname: Retterer
authors.affiliation: VMP Genetics, Roswell, GA, USA.|Department of Kinesiology, University of Georgia, Athens, GA, USA.
authors.forename: F
authors.initials: F
authors.lastname: Kendall
authors.affiliation: Department of Pediatrics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
authors.forename: M
authors.initials: M
authors.lastname: Deardorff
authors.affiliation: Division of Neurology, The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
authors.forename: S
authors.initials: S
authors.lastname: Hopkins
authors.affiliation: Individualized Medical Genetics Center, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
authors.forename: E
authors.initials: E
authors.lastname: Bedoukian
authors.affiliation: Department of Pediatrics, UCSF Benioff Children's Hospital, University of California, San Francisco, CA, USA.
authors.forename: A
authors.initials: A
authors.lastname: Slavotinek
authors.affiliation: Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.
authors.forename: S
authors.initials: S
authors.lastname: Schrier Vergano
authors.affiliation: Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.
authors.forename: B
authors.initials: B
authors.lastname: Spangler
authors.affiliation: Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.
authors.forename: M
authors.initials: M
authors.lastname: McDonald
authors.affiliation: Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.
authors.forename: A
authors.initials: A
authors.lastname: McConkie-Rosell
authors.affiliation: Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
authors.forename: B K
authors.initials: BK
authors.lastname: Burton
authors.affiliation: Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
authors.forename: K H
authors.initials: KH
authors.lastname: Kim
authors.affiliation: Valley Hospital, Ridgewood, NJ, USA.
authors.forename: N
authors.initials: N
authors.lastname: Oundjian
authors.affiliation: New York Medical College, Valhalla, NY, USA.
authors.forename: D
authors.initials: D
authors.lastname: Kronn
authors.affiliation: New York Medical College, Valhalla, NY, USA.
authors.forename: N
authors.initials: N
authors.lastname: Chandy
authors.affiliation: GeneDx, Gaithersburg, MD, USA.
authors.forename: B
authors.initials: B
authors.lastname: Baskin
authors.affiliation: GeneDx, Gaithersburg, MD, USA.
authors.forename: M J
authors.initials: MJ
authors.lastname: Guillen Sacoto
authors.affiliation: GeneDx, Gaithersburg, MD, USA.
authors.forename: I M
authors.initials: IM
authors.lastname: Wentzensen
authors.affiliation: GeneDx, Gaithersburg, MD, USA.
authors.forename: H M
authors.initials: HM
authors.lastname: McLaughlin
authors.affiliation: GeneDx, Gaithersburg, MD, USA.
authors.forename: D
authors.initials: D
authors.lastname: McKnight
authors.affiliation: Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.|Department of Medicine, Columbia University Medical Center, New York, NY, USA.
authors.forename: W K
authors.initials: WK
authors.lastname: Chung
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D012640:Seizures / Q000235:genetics* / Q000503:physiopathology; D033921:Vesicular Transport Proteins / Q000235:genetics*; D000073359:Exome Sequencing
chemical_list: C491914:PACS1 protein, human; D033921:Vesicular Transport Proteins