Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures-Reference-Cited by-同舟云学术

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

Published:2017-01-23 Issue:2 Volume:92 Page:221-223
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Stern D.¹,Cho M.T.²,Chikarmane R.²,Willaert R.²,Retterer K.²,Kendall F.³⁴,Deardorff M.⁵,Hopkins S.⁶,Bedoukian E.⁷,Slavotinek A.⁸,Schrier Vergano S.⁹,Spangler B.⁹,McDonald M.¹⁰,McConkie-Rosell A.¹⁰,Burton B.K.¹¹,Kim K.H.¹¹,Oundjian N.¹²,Kronn D.¹³,Chandy N.¹³,Baskin B.²,Guillen Sacoto M.J.²,Wentzensen I.M.²,McLaughlin H.M.²,McKnight D.²,Chung W.K.¹¹⁴

Affiliation:

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

Funder

National Institutes of Health

Simons Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12956/fullpdf

Reference5 articles.

1. Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability;Gadzicki;Clin Genet,2015

2. Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome;Schuurs-Hoeijmakers;Am J Hum Genet,2012

3. Clinical delineation of the PACS1-related syndrome - Report on 19 patients;Schuurs-Hoeijmakers;Am J Med Genet A,2016

4. PACS-1 defines a novel gene family of cytosolic sorting proteins required for trans-Golgi network localization;Wan;Cell,1998

5. The phosphorylation state of an autoregulatory domain controls PACS-1-directed protein traffic;Scott;EMBO J,2003

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