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

D Stern; M T Cho; R Chikarmane; R Willaert; K Retterer; F Kendall; M Deardorff; S Hopkins; E Bedoukian; A Slavotinek; S Schrier Vergano; B Spangler; M McDonald; A McConkie-Rosell; B K Burton; K H Kim; N Oundjian; D Kronn; N Chandy; B Baskin; M J Guillen Sacoto; I M Wentzensen; H M McLaughlin; D McKnight; W K Chung

doi:10.1111/cge.12956

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.

Authors

D Stern¹, M T Cho², R Chikarmane², R Willaert², K Retterer², F Kendall^{3

4}, M Deardorff⁵, S Hopkins⁶, E Bedoukian⁷, A Slavotinek⁸, S Schrier Vergano⁹, B Spangler⁹, M McDonald¹⁰, A McConkie-Rosell¹⁰, B K Burton¹¹, K H Kim¹¹, N Oundjian¹², D Kronn¹³, N Chandy¹³, B Baskin², M J Guillen Sacoto², I M Wentzensen², H M McLaughlin², D McKnight², W K Chung^{1

14}

Affiliations

¹ Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.
² GeneDx, Gaithersburg, MD, USA.
³ VMP Genetics, Roswell, GA, USA.
⁴ Department of Kinesiology, University of Georgia, Athens, GA, USA.
⁵ Department of Pediatrics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
⁶ Division of Neurology, The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
⁷ Individualized Medical Genetics Center, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
⁸ Department of Pediatrics, UCSF Benioff Children's Hospital, University of California, San Francisco, CA, USA.
⁹ Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.
¹⁰ Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.
¹¹ Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
¹² Valley Hospital, Ridgewood, NJ, USA.
¹³ New York Medical College, Valhalla, NY, USA.
¹⁴ Department of Medicine, Columbia University Medical Center, New York, NY, USA.

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
Exome Sequencing
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*

Substances

PACS1 protein, human
Vesicular Transport Proteins

Grants and funding

T35 HL007616/HL/NHLBI NIH HHS/United States