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一名患有自闭症谱系障碍且因压力引发复发性精神病综合征的患者，其CADPS2基因座存在涉及7q31 - 32带的缺失。

Deletion Involving the 7q31-32 Band at the CADPS2 Gene Locus in a Patient with Autism Spectrum Disorder and Recurrent Psychotic Syndrome Triggered by Stress.

作者信息

Grabowski Paulo André Pera, Bello Alexandre Ferreira, Rodrigues Diogo Lima, Forbeci Murilo José, Motter Vinicius, Raskin Salmo

机构信息

Psychiatric Outpatient Unit, The Municipal Health Department of São José dos Pinhais, São José dos Pinhais, PR, Brazil.

Pontifical Catholic University of Paraná, Faculdade Evangélica do Paraná, and Universidade Positivo, Curitiba, PR, Brazil.

出版信息

Case Rep Psychiatry. 2017;2017:4254152. doi: 10.1155/2017/4254152. Epub 2017 Oct 19.

DOI:10.1155/2017/4254152
PMID:29201482
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5671701/
Abstract

Autism spectrum disorder (ASD) is a neurodevelopmental disorder marked by impairments in social functioning, language, communication, and behavior. Recent genome-wide association studies show some microdeletions on the 7q31-32 region, including the CADPS2 locus in autistic patients. This paper reports the case of a patient with ASD and recurrent psychotic syndrome, in which a deletion on the 7q31-32 band at the CADPS2 gene locus was evidenced, as well as a brief review of the literature on the CADPS2 gene and its association with ASD.

摘要

自闭症谱系障碍（ASD）是一种神经发育障碍，其特征是社交功能、语言、沟通和行为受损。最近的全基因组关联研究表明，自闭症患者的7q31 - 32区域存在一些微缺失，包括CADPS2基因座。本文报告了一例患有ASD和复发性精神病综合征的患者，其中证实了CADPS2基因座处7q31 - 32带的缺失，并对CADPS2基因及其与ASD的关联的文献进行了简要综述。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a74/5671701/10ecc6579a4d/CRIPS2017-4254152.004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a74/5671701/56a895140de2/CRIPS2017-4254152.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a74/5671701/27b3d21c5870/CRIPS2017-4254152.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a74/5671701/bbfacf3576a4/CRIPS2017-4254152.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a74/5671701/10ecc6579a4d/CRIPS2017-4254152.004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a74/5671701/56a895140de2/CRIPS2017-4254152.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a74/5671701/27b3d21c5870/CRIPS2017-4254152.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a74/5671701/bbfacf3576a4/CRIPS2017-4254152.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a74/5671701/10ecc6579a4d/CRIPS2017-4254152.004.jpg

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本文引用的文献

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Autism spectrum disorders--a genetics review.自闭症谱系障碍——遗传学综述。
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Interaction of calcium-dependent activator protein for secretion 1 (CAPS1) with the class II ADP-ribosylation factor small GTPases is required for dense-core vesicle trafficking in the trans-Golgi network.
保持平衡：人类大脑进化、自闭症与精神分裂症之间的权衡
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CAPS2 Deficiency Impairs the Release of the Social Peptide Oxytocin, as Well as Oxytocin-Associated Social Behavior.CAPS2 缺乏会损害社交肽催产素的释放以及与催产素相关的社交行为。
J Neurosci. 2021 May 19;41(20):4524-4535. doi: 10.1523/JNEUROSCI.3240-20.2021. Epub 2021 Apr 12.
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