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本文引用的文献

1
Clinical delineation of the PACS1-related syndrome--Report on 19 patients.PACS1相关综合征的临床描述——19例患者报告
Am J Med Genet A. 2016 Mar;170(3):670-5. doi: 10.1002/ajmg.a.37476. Epub 2016 Feb 3.
2
Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability.扩展PACS1基因中导致智力残疾的反复新发变异的表型。
Clin Genet. 2015 Sep;88(3):300-2. doi: 10.1111/cge.12544. Epub 2014 Dec 18.
3
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.PACS1 中的反复新生突变导致颅神经嵴迁移缺陷，并定义了一种可识别的智力障碍综合征。
Am J Hum Genet. 2012 Dec 7;91(6):1122-7. doi: 10.1016/j.ajhg.2012.10.013. Epub 2012 Nov 15.
4
The phosphorylation state of an autoregulatory domain controls PACS-1-directed protein traffic.自调节结构域的磷酸化状态控制着PACS-1介导的蛋白质运输。
EMBO J. 2003 Dec 1;22(23):6234-44. doi: 10.1093/emboj/cdg596.
5
PACS-1 defines a novel gene family of cytosolic sorting proteins required for trans-Golgi network localization.PACS-1定义了一个新的胞质分选蛋白基因家族，该家族是反式高尔基体网络定位所必需的。
Cell. 1998 Jul 24;94(2):205-16. doi: 10.1016/s0092-8674(00)81420-8.

PACS1基因中错义变体p.Arg203Trp与智力残疾和癫痫发作的关联作为病因。

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

作者信息

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

机构信息

Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.

GeneDx, Gaithersburg, MD, USA.

出版信息

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

DOI:10.1111/cge.12956
PMID:28111752
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5513756/
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.

摘要

图形摘要关键信息

ADHD，注意力缺陷多动障碍；ASD，房间隔缺损；DD，发育迟缓；EEG，脑电图；Ht，身高；ID，智力残疾；OCD，强迫症；OFC，前囟未闭；PDA，动脉导管未闭；PFO，卵圆孔未闭；VSD，室间隔缺损；Wt，体重。