Psychiatric Genetics最新文献

Contrasting outcomes of 16p11.2 microdeletion and microduplication in prenatal diagnosis: phenotypic variability and genetic counseling strategies. 产前诊断中16p11.2微缺失和微重复的对比结果：表型变异性和遗传咨询策略。

IF 1.4 4区医学

Psychiatric Genetics Pub Date : 2026-09-01 Epub Date: 2026-07-29 DOI: 10.1097/YPG.0000000000000421

Qiu Guo, Li Zhang, Yi Zuo, Jiale Mei, Chengcheng Zhang

{"title":"Contrasting outcomes of 16p11.2 microdeletion and microduplication in prenatal diagnosis: phenotypic variability and genetic counseling strategies.","authors":"Qiu Guo, Li Zhang, Yi Zuo, Jiale Mei, Chengcheng Zhang","doi":"10.1097/YPG.0000000000000421","DOIUrl":"10.1097/YPG.0000000000000421","url":null,"abstract":"Background: Copy number variations (CNVs) in the 16p11.2 region are associated with neurodevelopmental disorders, but they exhibit incomplete penetrance and variable expressivity. Prenatal diagnosis of these CNVs presents significant challenges because of the unpredictable phenotypic outcomes.Materials and methods: We retrospectively analyzed two fetal cases diagnosed prenatally via amniocentesis with CNV sequencing (CNV-seq) as having 16p11.2 CNVs, and discussed them in the context of current literature. In this research, GTG-banding karyotype analysis, CNV-seq, and whole-exome sequencing were performed.Results: Case 1 had a de novo 16p11.2 microdeletion [del(16)(p11.2)] accompanied by an ultrasound soft marker (absent nasal bone); the pregnancy was terminated after genetic counseling. Case 2 carried a de novo 16p11.2 microduplication [dup(16)(p11.2)] and was born with a normal phenotype to date.Conclusion: 16p11.2 microdeletion and microduplication syndromes exhibit significant phenotypic heterogeneity and incomplete penetrance. When such CNVs are identified prenatally, integrated management - including parental testing, detailed fetal imaging, and comprehensive, nondirective genetic counseling - is essential to provide families with individualized risk assessment and support informed decision-making.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"36 3","pages":"151-155"},"PeriodicalIF":1.4,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148713180","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

A rare missense variant in Bruton's tyrosine kinase is associated with bipolar disorder accompanied by psychosis. 一种罕见的布鲁顿酪氨酸激酶错义变体与双相情感障碍伴发精神病有关。

IF 1.4 4区医学

Psychiatric Genetics Pub Date : 2026-09-01 Epub Date: 2026-07-29 DOI: 10.1097/YPG.0000000000000422

Ambreen Kanwal, Husnain Arshad Cheema, Nauman Jabbar, Amina Iftikhar, Jose V Pardo, Sadaf Naz

{"title":"A rare missense variant in Bruton's tyrosine kinase is associated with bipolar disorder accompanied by psychosis.","authors":"Ambreen Kanwal, Husnain Arshad Cheema, Nauman Jabbar, Amina Iftikhar, Jose V Pardo, Sadaf Naz","doi":"10.1097/YPG.0000000000000422","DOIUrl":"10.1097/YPG.0000000000000422","url":null,"abstract":"Introduction: Bipolar disorder is a mental disorder associated with extreme mood shifts. Psychosis (hallucinations, delusions, and thought disorder) can also co-occur in some patients. Although highly heritable, the genetic etiology of bipolar disorder remains unclear.Methods: We visited outpatient departments of mental hospitals and recruited all members of a consanguineous family in which multiple siblings had psychosis. Clinical assessments using standardized rating tools were administered. Whole-exome sequencing was performed for all participants.Results: Three male siblings were identified to have bipolar disorder with psychosis, while their sister was affected with bipolar disorder without psychosis. Other relatives were unaffected. Analysis of exome data identified six variants segregating with psychosis. Only one hemizygous variant, Bruton's tyrosine kinase ( BTK ) c.410A>G, p.(Asp137Gly), was predicted deleterious. The variant was rare in all publicly available databases (gnomAD allele frequency = 0.00001094) and was absent from the DNA of at least 400 unrelated ethnically matched controls. The amino acid affected by this variant was conserved among orthologs. The mutated BTK p.Gly137 residue was predicted to lack the interacting bond with p.Ser136.Discussion: Most reported BTK variants are known to cause agammaglobulinemia. A de-novo variant in BTK p.(Arg255Gln) was previously associated with schizophrenia in one female patient. Multigenic deletions, including BTK , can cause deafness-dystonia-optic neuropathy syndrome, sometimes accompanied by psychosis. Taken together, these studies indicate that BTK may have a role in some mental disorders that needs to be investigated further. Use of animal models may elucidate any BTK function in the brain.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":" ","pages":"138-150"},"PeriodicalIF":1.4,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148272356","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 report of a boy with autism spectrum disorder and lysinuric protein intolerance. 男孩孤独症谱系障碍合并赖氨酸尿蛋白不耐受1例报告。

IF 1.4 4区医学

Psychiatric Genetics Pub Date : 2026-09-01 Epub Date: 2026-04-28 DOI: 10.1097/YPG.0000000000000419

Vildan Ak, Husna Kaan, Ali Karayagmurlu

引用次数: 0

Identification of rare missense variants of ionotropic glutamate receptor N-methyl- D -aspartate 2 genes in patients with schizophrenia. 精神分裂症患者嗜离子性谷氨酸受体n -甲基- d -天冬氨酸2基因罕见错义变异的鉴定。

IF 1.4 4区医学

Psychiatric Genetics Pub Date : 2026-09-01 Epub Date: 2026-06-05 DOI: 10.1097/YPG.0000000000000423

Chia-Liang Wu, Tsung-Ming Hu, Shih-Hsin Hsu, Hsin-Yao Tsai, Min-Chih Cheng

引用次数: 0

Expression and function of miR-218-5p in the pathogenesis of postpartum depression. miR-218-5p在产后抑郁发病机制中的表达及功能

IF 1.4 4区医学

Psychiatric Genetics Pub Date : 2026-09-01 Epub Date: 2026-05-08 DOI: 10.1097/YPG.0000000000000417

Liyan Yu, Qian Liu

{"title":"Expression and function of miR-218-5p in the pathogenesis of postpartum depression.","authors":"Liyan Yu, Qian Liu","doi":"10.1097/YPG.0000000000000417","DOIUrl":"10.1097/YPG.0000000000000417","url":null,"abstract":"Background: Postpartum depression (PPD) is a prevalent mental health condition following childbirth, currently diagnosed primarily through subjective evaluations, and its underlying biological mechanisms remain poorly understood.Objectives: This study evaluated the potential of miR-218-5p as a biomarker for PPD, while further explored its regulatory roles in depressive-like behaviors, inflammatory, and oxidative stress to provide clinical guidance for the precise diagnosis and treatment.Methods: This study enrolled 106 PPD patients and 95 healthy puerperae. A PPD-like model was established in rats via chronic unpredictable mild stress (CUMS), with miR-218-5p overexpression in the experimental group. miR-218-5p levels were quantified via quantitative PCR. Receiver operating characteristic curve and logistic regression assessed miR-218-5p's diagnostic and predictive value. In addition, standard animal behavioral tests evaluated behavioral alterations in the CUMS and miR-218-5p overexpression groups. ELISA measured changes in inflammatory cytokines and oxidative stress markers.Results: In PPD patients, serum miR-218-5p were significantly lower and inversely related to depressive severity. It showed strong diagnostic accuracy for PPD and served as a standalone biomarker for predicting PPD onset. In CUMS rat model, key behaviors were distinctly altered. In addition, miR-218-5p expression was reduced in rat serum and hippocampus; hippocampal proinflammatory cytokine levels were increased, while antioxidant enzyme activity was lower. Overexpressing miR-218-5p in the model significantly alleviated depressive-like behaviors and reduced hippocampal inflammatory responses and oxidative stress injury. NRAS was a potential target gene of miR-218-5p.Conclusion: miR-218-5p may act as a promising biomarker for PPD. It can reduce depressive-like symptoms via regulating inflammatory processes and rebalancing oxidative stress through NRAS .","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":" ","pages":"123-137"},"PeriodicalIF":1.4,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148150882","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

Dissecting causal and putative mechanistic pathways from lifestyle factors to neurological diseases via the glymphatic system: a Mendelian randomization study. 通过淋巴系统剖析从生活方式因素到神经疾病的因果和假定的机制途径：一项孟德尔随机化研究。

IF 1.4 4区医学

Psychiatric Genetics Pub Date : 2026-09-01 Epub Date: 2026-07-29 DOI: 10.1097/YPG.0000000000000420

Weiyu Hou, Weiming Hou

{"title":"Dissecting causal and putative mechanistic pathways from lifestyle factors to neurological diseases via the glymphatic system: a Mendelian randomization study.","authors":"Weiyu Hou, Weiming Hou","doi":"10.1097/YPG.0000000000000420","DOIUrl":"10.1097/YPG.0000000000000420","url":null,"abstract":"Objective: This study aimed to investigate the causal associations and potential mechanistic pathways involving pulse rate, neuronal cell adhesion molecule (NrCAM), migraine, and other neurological disorders within the context of the glymphatic system.Methods and results: Using bidirectional two-sample Mendelian randomization analysis, we constructed simple, parallel, and serial causal pathway diagrams based on significant genetic evidence, in combination with a disease network approach, to elucidate key relationships and plausible biological routes. Key findings indicate that pulse rate influences NrCAM expression, and NrCAM mediates the development of migraine. Neurological disorders such as stroke and Parkinson's disease were found to impact related molecular pathways. The study identifies NrCAM as a pivotal molecule in the glymphatic system, influenced by lifestyle factors and contributing to migraine pathogenesis. Moreover, pulse rate acts as an initiating factor driving molecular changes, with neurological disorders serving as mediators in the causal network.Conclusion: The complex interplay between lifestyle, physiological factors, molecular mediators, and neurological disorders reveals an intricate network of causality in neurological disease. These findings underscore the importance of optimizing glymphatic function and highlight NrCAM as a potential therapeutic target. Understanding these interactions provides insights for developing targeted interventions and personalized treatment strategies for neurological disease prevention and management.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":" ","pages":"113-122"},"PeriodicalIF":1.4,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148309125","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

Elucidation of crucial metabolic pathways in the etiology of autism spectrum disorder through whole exome sequencing and chromosomal microarray. 通过全外显子组测序和染色体微阵列技术阐明自闭症谱系障碍病因学中的关键代谢途径。

IF 1.4 4区医学

Psychiatric Genetics Pub Date : 2026-06-01 Epub Date: 2026-01-21 DOI: 10.1097/YPG.0000000000000413

Shaik Mohammad Naushad, Shaik Esdhan Basha, Yadam Reddy Kanaka Durga Devi, Palanichamy Palanikumar, Ramesh Konanki

{"title":"Elucidation of crucial metabolic pathways in the etiology of autism spectrum disorder through whole exome sequencing and chromosomal microarray.","authors":"Shaik Mohammad Naushad, Shaik Esdhan Basha, Yadam Reddy Kanaka Durga Devi, Palanichamy Palanikumar, Ramesh Konanki","doi":"10.1097/YPG.0000000000000413","DOIUrl":"10.1097/YPG.0000000000000413","url":null,"abstract":"Background: Autism spectrum disorder (ASD) has a complex genetic etiology, with limited data from Indian populations. This study delineates the genetic architecture of ASD in Indian children using whole exome sequencing (WES) and exploratory genetic association studies (GASs).Methods: WES was performed on 142 Indian children with ASD, diagnosed per the Diagnostic and Statistical Manual V criteria. GAS compared cases to 180 age- and ethnicity-matched Indian controls (aged 4-8 years) who exhibited normal neurological development. Variants were annotated using annotate variation, classified per the American College of Medical Genetics and Genomics guidelines, and analyzed for gene ontology, Kyoto Encyclopedia of Genes and Genomes pathways, and GAS associations. Chromosomal microarray 750K was used to confirm the copy number variations.Results: WES identified pathogenic/likely pathogenic variants in 20 cases (14.08%) (12 autosomal dominant, five autosomal recessive, and three X-linked) and variants of uncertain significance in 107 cases (75.35%). Chromosomal microarray analysis revealed six pathogenic variants in 49 autism cases. Functional enrichment implicated neurotransmitter function, synaptic transmission, chromatin remodeling, and glutamatergic/GABAergic imbalances. GAS revealed significant variants (rs2014562 and rs7730228) and a chromosome 11 hotspot ( MUC6 , ZDHHC13 , OR8U1 , OR9G1 ), with chr5 : 130-131 Mb single nucleotide polymorphisms (SNPs) interacting with ADAMTS19 .Conclusion: This study highlights genetic heterogeneity in Indian ASD cases, identifying novel variants and pathways of potential biological relevance. Moderate GAS sample size and high variants of uncertain significance burden warrant further validation.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":" ","pages":"81-89"},"PeriodicalIF":1.4,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146143436","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

Are polygenic scores for psychiatric and substance use outcomes "ready" for clinical application? Current state and next steps. 精神病学和药物使用结果的多基因评分是否“准备好”用于临床应用？当前状态和下一步。

IF 1.4 4区医学

Psychiatric Genetics Pub Date : 2026-06-01 Epub Date: 2026-04-07 DOI: 10.1097/YPG.0000000000000415

Danielle M Dick, Genevieve F Dash, I-Tzu Hung, Arianna Horgan

{"title":"Are polygenic scores for psychiatric and substance use outcomes \"ready\" for clinical application? Current state and next steps.","authors":"Danielle M Dick, Genevieve F Dash, I-Tzu Hung, Arianna Horgan","doi":"10.1097/YPG.0000000000000415","DOIUrl":"10.1097/YPG.0000000000000415","url":null,"abstract":"Despite drastic advances in psychiatric genetics, comparatively little attention has focused on the translation of those discoveries into real-world impact. This paper reviews the processes and considerations for integrating new techniques into clinical practice and provides an overview of areas of medicine where polygenic scores (PGS) are already being incorporated. We evaluate current PGS across three areas of psychiatry (depression, substance use disorders, and schizophrenia) against the criteria used by the National Electronic Medical Records and Genomics consortium to select PGS to study in a clinical context, finding that the PGS for psychiatric conditions are comparable to the PGS being implemented in clinical practice for other medical conditions. We conclude by discussing next steps for evaluating psychiatric PGS for clinical implementation including ethical issues that must be considered, and the need for more research on clinical utility to evaluate whether and how PGS can be used to improve behavioral health outcomes.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":" ","pages":"57-68"},"PeriodicalIF":1.4,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13124273/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147699579","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

Prenatal diagnosis and genetic counselling of a rare de-novo 12p13.33p13.32 deletion and 15q26.2q26.3 duplication in a Chinese family. 一个中国家庭罕见的12p13.33p13.32缺失和15q26.2q26.3重复的产前诊断和遗传咨询。

IF 1.4 4区医学

Psychiatric Genetics Pub Date : 2026-06-01 Epub Date: 2026-01-21 DOI: 10.1097/YPG.0000000000000412

Zhenzhen Zhang, Wei Wang, Jin Xiong, Qi Xia

{"title":"Prenatal diagnosis and genetic counselling of a rare de-novo 12p13.33p13.32 deletion and 15q26.2q26.3 duplication in a Chinese family.","authors":"Zhenzhen Zhang, Wei Wang, Jin Xiong, Qi Xia","doi":"10.1097/YPG.0000000000000412","DOIUrl":"10.1097/YPG.0000000000000412","url":null,"abstract":"Background: Copy number variants are an important source of normal and pathogenic genome variations. Constitutional deletions involving the distal part of the short arm of chromosome 12(12p13.33p13.32) are very rare. These deletions are associated with an emerging condition associated with variable phenotype, including a specific speech delay sound disorder, labeled childhood apraxia of speech, intellectual disability, and neurobehavioral problems. Trisomy of distal chromosome 15q has rarely been reported. It is generally believed that the terminal duplication of 15q26.2q26.3 is related to overgrowth phenotype, distinct facial features and intellectual disability.Materials and methods: A 21-year-old woman (gravida 1, para 0) underwent amniocentesis at 26 weeks' gestation following the detection of a persistent left superior vena cava of the fetus on prenatal ultrasound. In this research, GTG-banding karyotype analysis, chromosomal microarray analysis (CMA), whole-exome sequencing (WES), and fluorescence in-situ hybridization (FISH) were performed.Results: CMA detected a 4.36 Mb deletion on chromosome 12p13.33p13.32 and a 7.59 Mb duplication on chromosome 15q26.2q26.3 of the fetus. No abnormality was found in the parents' genetic examination. After genetic counselling, the parents decided to continue the pregnancy.Conclusion: We provide a detailed description of the prenatal diagnosis and genetic counselling of a rare de-novo 12p13.33p13.32 deletion and 15q26.2q26.3 duplication in a Chinese family. A combination of karyotype analysis, CMA, WES, FISH, prenatal ultrasound, and genetic counselling is helpful for the prenatal diagnosis of chromosomal deletions/duplications and pathogenic gene variants.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":" ","pages":"90-94"},"PeriodicalIF":1.4,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146143417","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

Genetic correlation between inflammatory bowel disease and educational attainment: unveiling shared genetic mechanisms. 炎症性肠病与受教育程度之间的遗传相关性：揭示共享的遗传机制。

IF 1.4 4区医学

Psychiatric Genetics Pub Date : 2026-06-01 Epub Date: 2026-04-06 DOI: 10.1097/YPG.0000000000000416

Zhonghua Hong, Hezhai Yin

{"title":"Genetic correlation between inflammatory bowel disease and educational attainment: unveiling shared genetic mechanisms.","authors":"Zhonghua Hong, Hezhai Yin","doi":"10.1097/YPG.0000000000000416","DOIUrl":"10.1097/YPG.0000000000000416","url":null,"abstract":"Background: A potential genetic link between inflammatory bowel disease (IBD) and educational attainment has been suggested. Understanding the underlying mechanisms of this genetic relationship is crucial for advancing the knowledge of their co-occurrence patterns.Methods: Using genome-wide association study data for both IBD and educational attainment, a multiphase analytical approach was applied to examine their genetic correlation. The study involved three phases: first, linkage disequilibrium score regression and high-definition likelihood models were used to assess genome-wide genetic correlation; second, SUPERGNOVA was employed to analyze the genetic structure across specific chromosomal regions; and third, conditional/conjunctional false discovery rate (cond/conjFDR) methods were applied to measure genetic overlap and identify shared genetic loci between the two traits.Results: The genome-wide analysis revealed significant genetic correlations between IBD, especially Crohn's disease, and educational attainment, while the association with ulcerative colitis was weaker. Regional analyses identified localized genetic correlation signals across several chromosomal regions between these traits. The application of the conjFDR framework confirmed the presence of overlapping genetic components, leading to the identification of key genetic variants contributing to disease susceptibility and progression.Conclusion: This genetic study provides new theoretical insights into the association between IBD and educational attainment, contributing to a deeper understanding of the mechanisms underlying their co-occurrence.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":" ","pages":"95-105"},"PeriodicalIF":1.4,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147699615","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