Psychiatric Genetics最新文献_第4页

Familial KCNQ2 mutation: a psychiatric perspective. 家族性 KCNQ2 基因突变：精神病学视角。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2024-02-01 Epub Date: 2023-12-13 DOI: 10.1097/YPG.0000000000000360

Anton Iftimovici, Angeline Charmet, Béatrice Desnous, Ana Ory, Richard Delorme, Charles Coutton, Françoise Devillard, Mathieu Milh, Anna Maruani

{"title":"Familial KCNQ2 mutation: a psychiatric perspective.","authors":"Anton Iftimovici, Angeline Charmet, Béatrice Desnous, Ana Ory, Richard Delorme, Charles Coutton, Françoise Devillard, Mathieu Milh, Anna Maruani","doi":"10.1097/YPG.0000000000000360","DOIUrl":"10.1097/YPG.0000000000000360","url":null,"abstract":"KCNQ2 mutations are a common cause of early-onset epileptic syndromes. They are associated with heterogeneous developmental profiles, from mild to severe cognitive and social impairments that need better characterization. We report a case of an inherited KCNQ2 mutation due to a deletion c.402delC in a heterozygous state, in the exon 3 of the KCNQ2 gene. A 5-year-old boy presented a cluster of sudden-onset generalized tonic-clonic seizures at three months of age, after an unremarkable postnatal period. Multiplex ligation-dependent probe amplification identified a familial mutation after an investigation in the family revealed that this mutation was present on the father's side. The patient was diagnosed with autism and intellectual deficiency in a context of KCNQ2 -encephalopathy. We describe his clinical features in light of current literature. This report highlights the importance of appropriate genetic counseling and psychiatric assessment in planning the medical and social follow-up of a disorder with complex socio-behavioral features.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":" ","pages":"24-27"},"PeriodicalIF":0.9,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10766091/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138806496","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Discriminative features in White-Sutton syndrome: literature review and first report in Iran. White-Sutton综合征的鉴别特征:伊朗的文献回顾和首次报道。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2024-02-01 Epub Date: 2023-11-28 DOI: 10.1097/YPG.0000000000000358

Emran Esmaeilzadeh, Aysan Jafari Harandi, Fatemeh Astaraki, Hamid Reza Khorram Khorshid

引用次数: 0

A rare case report of Huntington's disease with severe psychiatric symptoms as initial manifestations. 一例罕见的亨廷顿氏病病例报告，最初表现为严重的精神症状。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2024-02-01 Epub Date: 2023-12-13 DOI: 10.1097/YPG.0000000000000359

Chenling Lv, Zhenzhong Zhang, Yan Zhang, Lin Zhong, Ziqiang Yu, Dengjun Guo

{"title":"A rare case report of Huntington's disease with severe psychiatric symptoms as initial manifestations.","authors":"Chenling Lv, Zhenzhong Zhang, Yan Zhang, Lin Zhong, Ziqiang Yu, Dengjun Guo","doi":"10.1097/YPG.0000000000000359","DOIUrl":"10.1097/YPG.0000000000000359","url":null,"abstract":"Introduction: Huntington's disease (HD) stands as an inherited and progressive neurodegenerative ailment distinguished by chorea-esque movement patterns, which manifest as archetypal symptoms. The presence of pronounced psychiatric onset symptoms in patients can considerably amplify the intricacies of accurate diagnosis.Case presentation: A 43-year-old gentleman was admitted with a five-year chronicle of delusions, hallucinations, and irritability. He had previously received a diagnosis of schizophrenia and had been subjected to a regimen of antipsychotic medications for a span exceeding four years. However, subsequent to the application of cerebral MRI and genetic testing, his condition was conclusively redetermined as HD.Conclusion: The salient attribute of this case resides in the deferred diagnosis of HD attributable to the presence of acute psychiatric initial symptoms, a scenario bearing noteworthy ramifications for disease oversight and prognostication. This instance warrants attentive scrutiny and discourse within the professional community.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"34 1","pages":"15-18"},"PeriodicalIF":0.9,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139378207","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Case of twin achondroplasia and autism coexistence and literature review. 双生软骨发育不全伴自闭症1例并文献复习。

IF 1.5 4区医学

Psychiatric Genetics Pub Date : 2023-12-01 Epub Date: 2023-09-07 DOI: 10.1097/YPG.0000000000000350

Nagehan Bilgeç, Özgür Balasar, Necati Uzun, Sevgi Pekcan, Fayize Maden Bedel, Hüseyin Çaksen

引用次数: 0

Chromatin gatekeeper and modifier CHD proteins in development, and in autism and other neurological disorders. 染色质看门人和修饰CHD蛋白在发育、自闭症和其他神经系统疾病中的作用。

IF 1.5 4区医学

Psychiatric Genetics Pub Date : 2023-12-01 Epub Date: 2023-10-16 DOI: 10.1097/YPG.0000000000000353

Tahir Muhammad, Stephen F Pastore, Katrina Good, Juan Ausió, John B Vincent

{"title":"Chromatin gatekeeper and modifier CHD proteins in development, and in autism and other neurological disorders.","authors":"Tahir Muhammad, Stephen F Pastore, Katrina Good, Juan Ausió, John B Vincent","doi":"10.1097/YPG.0000000000000353","DOIUrl":"10.1097/YPG.0000000000000353","url":null,"abstract":"Chromatin, a protein-DNA complex, is a dynamic structure that stores genetic information within the nucleus and responds to molecular/cellular changes in its structure, providing conditional access to the genetic machinery. ATP-dependent chromatin modifiers regulate access of transcription factors and RNA polymerases to DNA by either \"opening\" or \"closing\" the structure of chromatin, and its aberrant regulation leads to a variety of neurodevelopmental disorders. The chromodomain helicase DNA-binding (CHD) proteins are ATP-dependent chromatin modifiers involved in the organization of chromatin structure, act as gatekeepers of genomic access, and deposit histone variants required for gene regulation. In this review, we first discuss the structural and functional domains of the CHD proteins, and their binding sites, and phosphorylation, acetylation, and methylation sites. The conservation of important amino acids in SWItch/sucrose non-fermenting (SWI/SNF) domains, and their protein and mRNA tissue expression profiles are discussed. Next, we convey the important binding partners of CHD proteins, their protein complexes and activities, and their involvements in epigenetic regulation. We also show the ChIP-seq binding dynamics for CHD1, CHD2, CHD4, and CHD7 proteins at promoter regions of histone genes, as well as several genes that are critical for neurodevelopment. The role of CHD proteins in development is also discussed. Finally, this review provides information about CHD protein mutations reported in autism and neurodevelopmental disorders, and their pathogenicity. Overall, this review provides information on the progress of research into CHD proteins, their structural and functional domains, epigenetics, and their role in stem cell, development, and neurological disorders.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":" ","pages":"213-232"},"PeriodicalIF":1.5,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41238045","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genome-wide association study of antisocial personality disorder diagnostic criteria provides evidence for shared risk factors across disorders. 反社会人格障碍诊断标准的全基因组关联研究为各种障碍的共同风险因素提供了证据。

IF 1.5 4区医学

Psychiatric Genetics Pub Date : 2023-12-01 Epub Date: 2023-09-19 DOI: 10.1097/YPG.0000000000000352

Wenqianglong Li, Hang Zhou, Johan H Thygesen, Mathis Heydtmann, Iain Smith, Franziska Degenhardt, Markus Nöthen, Marsha Y Morgan, Henry R Kranzler, Joel Gelernter, Nicholas Bass, Andrew McQuillin

{"title":"Genome-wide association study of antisocial personality disorder diagnostic criteria provides evidence for shared risk factors across disorders.","authors":"Wenqianglong Li, Hang Zhou, Johan H Thygesen, Mathis Heydtmann, Iain Smith, Franziska Degenhardt, Markus Nöthen, Marsha Y Morgan, Henry R Kranzler, Joel Gelernter, Nicholas Bass, Andrew McQuillin","doi":"10.1097/YPG.0000000000000352","DOIUrl":"10.1097/YPG.0000000000000352","url":null,"abstract":"Introduction: While progress has been made in determining the genetic basis of antisocial behaviour, little progress has been made for antisocial personality disorder (ASPD), a condition that often co-occurs with other psychiatric conditions including substance use disorders, attention deficit hyperactivity disorder (ADHD), and anxiety disorders. This study aims to improve the understanding of the genetic risk for ASPD and its relationship with other disorders and traits.Methods: We conducted a genome-wide association study (GWAS) of the number of ASPD diagnostic criteria data from 3217 alcohol-dependent participants recruited in the UK (UCL, N = 644) and the USA (Yale-Penn, N = 2573).Results: We identified rs9806493, a chromosome 15 variant, that showed a genome-wide significant association ( Z -score = -5.501, P = 3.77 × 10 -8 ) with ASPD criteria. rs9806493 is an eQTL for SLCO3A1 (Solute Carrier Organic Anion Transporter Family Member 3A1), a ubiquitously expressed gene with strong expression in brain regions that include the anterior cingulate and frontal cortices. Polygenic risk score analysis identified positive correlations between ASPD and smoking, ADHD, depression traits, and posttraumatic stress disorder. Negative correlations were observed between ASPD PRS and alcohol intake frequency, reproductive traits, and level of educational attainment.Conclusion: This study provides evidence for an association between ASPD risk and SLCO3A1 and provides insight into the genetic architecture and pleiotropic associations of ASPD.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":" ","pages":"233-242"},"PeriodicalIF":1.5,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10635348/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41176930","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Two novel variants of the STXBP1 and CHRNB2 genes identified in a Chinese boy with refractory seizures and developmental delay. 在一名患有难治性癫痫和发育迟缓的中国男孩身上发现了STXBP1和CHRNB2基因的两个新变体。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2023-10-01 Epub Date: 2023-06-12 DOI: 10.1097/YPG.0000000000000345

Sanmei Wang, Di Cui, Xiuxin Ling, Yu Hou, Jing Sun

引用次数: 0

Integrated multi-omics analysis identifies epigenetic alteration related to neurodegeneration development in post-traumatic stress disorder patients. 综合多组学分析确定了与创伤后应激障碍患者神经退行性变发展相关的表观遗传学改变。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2023-10-01 Epub Date: 2023-05-08 DOI: 10.1097/YPG.0000000000000340

Ayeh Bolouki, Moosa Rahimi, Negar Azarpira, Fatemeh Baghban

{"title":"Integrated multi-omics analysis identifies epigenetic alteration related to neurodegeneration development in post-traumatic stress disorder patients.","authors":"Ayeh Bolouki, Moosa Rahimi, Negar Azarpira, Fatemeh Baghban","doi":"10.1097/YPG.0000000000000340","DOIUrl":"https://doi.org/10.1097/YPG.0000000000000340","url":null,"abstract":"Introduction: Post-traumatic stress disorder (PTSD), is associated with an elevated risk of neurodegenerative disorders, but the molecular mechanism was not wholly identified. Aberrant methylation status and miRNA expression pattern have been identified to be associated with PTSD, but their complex regulatory networks remain largely unexplored.Methods: The purpose of this study was to identify the key genes/pathways related to neurodegenerative disorder development in PTSD by evaluating epigenetic regulatory signature (DNA methylation and miRNA) using an integrative bioinformatic analysis. We integrated DNA expression array data with miRNA and DNA methylation array data - obtained from the GEO database- to evaluate the epigenetic regulatory mechanisms.Results: Our results indicated that target genes of dysregulated miRNAs were significantly related to several neurodegenerative diseases. Several dysregulated genes in the neurodegeneration pathways interacted with some members of the miR-17 and miR-15/107 families. Our analysis indicated that APP/CaN/NFATs signaling pathway was dysregulated in the peripheral blood samples of PTSD. Besides, the DNMT3a and KMT2D genes, as the encoding DNA and histone methyltransferase enzymes, were upregulated, and DNA methylation and miRNA regulators were proposed as critical molecular mechanisms. Our study found dysregulation of circadian rhythm as the CLOCK gene was upregulated and hypomethylated at TSS1500 CpGs S_shores and was also a target of several dysregulated miRNAs.Conclusion: In conclusion, we found evidence of a negative feedback loop between stress oxidative, circadian rhythm dysregulation, miR-17 and miR-15/107 families, some essential genes involved in neuronal and brain cell health, and KMT2D/DNMT3a in the peripheral blood samples of PTSD.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"33 5","pages":"167-181"},"PeriodicalIF":0.9,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41210702","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Chromosomal rearrangement in the 22q11.2 region: a critical locus for sociability and attentional skills. 22q11.2区域的染色体重排：社交能力和注意力技能的关键位点。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2023-10-01 Epub Date: 2023-07-03 DOI: 10.1097/YPG.0000000000000351

Marie-Noëlle Babinet, Nadine Thomas, Linda Pons, Caroline Schluth-Bolard, Damien Sanlaville, Caroline Demily

引用次数: 0

Schizophrenia polygenic risk score and type 2 diabetes onset in older adults with no schizophrenia diagnosis. 没有精神分裂症诊断的老年人的精神分裂症多基因风险评分和2型糖尿病发作。

IF 1.5 4区医学

Psychiatric Genetics Pub Date : 2023-10-01 Epub Date: 2023-07-04 DOI: 10.1097/YPG.0000000000000349

Diana Shamsutdinova, Olesya Ajnakina, Angus Roberts, Daniel Stahl

{"title":"Schizophrenia polygenic risk score and type 2 diabetes onset in older adults with no schizophrenia diagnosis.","authors":"Diana Shamsutdinova, Olesya Ajnakina, Angus Roberts, Daniel Stahl","doi":"10.1097/YPG.0000000000000349","DOIUrl":"10.1097/YPG.0000000000000349","url":null,"abstract":"Objectives: An association between type 2 diabetes (T2DM) and schizophrenia has long been observed, and recent research revealed presence of shared genetic factors. However, epidemiological evidence was inconsistent, some reported insignificant contribution of genetic factors to T2DM-schizophrenia comorbidity. Prior works studied people with schizophrenia, particularly, antipsychotic-naive patients, or those during the first psychotic experience to limit schizophrenia-related environmental factors. In contrast, we controlled such factors by utilizing a general population sample of individuals undiagnosed with schizophrenia. We hypothesized that if schizophrenia genetics impact T2DM development and such impact is not fully mediated by schizophrenia-related environment, people with high polygenic schizophrenia risk would exhibit elevated T2DM incidence.Methods: Using a population-representative sample of adults aged ≥50 from English Longitudinal Study of Ageing ( n = 5968, 493 T2DM cases, average follow-up 8.7 years), we investigated if schizophrenia polygenic risk score (PGS-SZ) is associated with T2DM onset. A proportional hazards model with interval censoring was adjusted for age and sex (Model 1), and age, sex, BMI, hypertension, cardiovascular diseases, exercise, smoking, depressive symptoms and T2DM polygenic risk score (Model 2). According to the power calculations, hazard rates > 1.14 per standard deviation in PGS-SZ could be detected.Results: We did not observe a significant association between PGS-SZ and T2DM incidence (hazard ratio 1.04; 95% CI 0.93-1.15; and 1.01, 95% CI 0.94-1.09).Conclusion: Our results suggest low contribution of the intrinsic biological mechanisms driven by the polygenic risk of schizophrenia on future T2DM onset. Further research is needed.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"33 5","pages":"191-201"},"PeriodicalIF":1.5,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10501355/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10256948","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0