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与基因错义突变以及罕见的3号染色体短臂26.3区重复(DUP3p26.3)和16号染色体长臂23.3区重复(DUP16q23.3)相关的家族性精神病,影响[具体基因1]和[具体基因2]基因。 (注:原文中未明确给出两个具体基因名称,翻译时用[具体基因1]和[具体基因2]表示)

Familial Psychosis Associated With a Missense Mutation at Gene Combined With the Rare Duplications DUP3p26.3 and DUP16q23.3, Affecting the and Genes.

作者信息

Pol-Fuster Josep, Cañellas Francesca, Ruiz-Guerra Laura, Medina-Dols Aina, Bisbal-Carrió Bàrbara, Asensio Víctor, Ortega-Vila Bernat, Marzese Diego, Vidal Carme, Santos Carmen, Lladó Jerònia, Olmos Gabriel, Heine-Suñer Damià, Strauch Konstantin, Flaquer Antònia, Vives-Bauzà Cristòfol

机构信息

Health Research Institute of Balearic Islands (IdISBa), Palma, Spain.

Department of Biology, University of Balearic Islands (UIB) and Institut Universitari d'Investigacions en Ciències de la Salut, IUNICS, Palma, Spain.

出版信息

Front Genet. 2021 Apr 7;12:622886. doi: 10.3389/fgene.2021.622886. eCollection 2021.

Abstract

Psychosis is a highly heritable and heterogeneous psychiatric condition. Its genetic architecture is thought to be the result of the joint effect of common and rare variants. Families with high prevalence are an interesting approach to shed light on the rare variant's contribution without the need of collecting large cohorts. To unravel the genomic architecture of a family enriched for psychosis, with four affected individuals, we applied a system genomic approach based on karyotyping, genotyping by whole-exome sequencing to search for rare single nucleotide variants (SNVs) and SNP array to search for copy-number variants (CNVs). We identified a rare non-synonymous variant, g.39914279 C > G, in the gene, segregating with psychosis. Rare variants in the gene have been previously detected in SCZ patients. Besides, two rare CNVs, DUP3p26.3 and DUP16q23.3, were also identified in the family affecting relevant genes ( and , respectively). We hypothesize that the co-segregation of these duplications with the rare variant g.39914279 C > G of gene precipitated with schizophrenia and schizoaffective disorder.

摘要

精神病是一种具有高度遗传性和异质性的精神疾病。其遗传结构被认为是常见变异和罕见变异共同作用的结果。高患病率的家族是一种有趣的研究途径,无需收集大量队列就能阐明罕见变异的作用。为了解析一个有四名患者的精神病高发家族的基因组结构,我们应用了一种系统基因组学方法,包括核型分析、通过全外显子测序进行基因分型以寻找罕见单核苷酸变异(SNV)以及通过SNP阵列寻找拷贝数变异(CNV)。我们在该基因中鉴定出一个罕见的非同义变异g.39914279 C > G,它与精神病共分离。此前在精神分裂症患者中已检测到该基因的罕见变异。此外,在该家族中还鉴定出两个罕见的拷贝数变异,分别是DUP3p26.3和DUP16q23.3,它们分别影响相关基因( 和 )。我们推测这些重复与该基因的罕见变异g.39914279 C > G的共分离引发了精神分裂症和分裂情感性障碍。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3be7/8058362/930e7c6c0d52/fgene-12-622886-g001.jpg

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