Psychiatric Genetics最新文献

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

The clinical significance of miR-484 in depression of older people with Alzheimer's disease and its potential role on depressive behavior. miR-484在老年阿尔茨海默病患者抑郁中的临床意义及其对抑郁行为的潜在作用

IF 1.4 4区医学

Psychiatric Genetics Pub Date : 2026-06-01 Epub Date: 2026-01-21 DOI: 10.1097/YPG.0000000000000411

Shuai Teng, Ying Li, Xichun Wang, Pingjing Jiang

{"title":"The clinical significance of miR-484 in depression of older people with Alzheimer's disease and its potential role on depressive behavior.","authors":"Shuai Teng, Ying Li, Xichun Wang, Pingjing Jiang","doi":"10.1097/YPG.0000000000000411","DOIUrl":"10.1097/YPG.0000000000000411","url":null,"abstract":"Objective: MicroRNAs exhibit remarkable potential as biomarkers due to their multiple advantages in Alzheimer's disease (AD). This study aimed to explore the significance of miR-484 in AD.Methods: The study included 216 participants [70 healthy controls (HCs), 77 AD with nondepression, 69 AD with depression (AD-D)]. PCR measured serum and tissue miR-484 levels. Receiver operator characteristic curves evaluated miR-484 diagnostic potential for AD/AD-D. Logistic regression identified AD-D risk factors. Bioinformatics predicted miR-484 targets and functional pathways. Dual-luciferase assay validated the interaction between miR-484 and platelet derived growth factor subunit A (PDGFA). Chronic restraint stress (CRS) induced depression animal model by Kunming mice (20 each group × 6 groups). The effect of miR-484/PDGFA axis on depression-like behaviors was evaluated through behavioral tests (sucrose preference, forced swim, and open field).Results: Serum miR-484 was downregulated in AD and further decreased in AD-D compared with HCs. MiR-484 downregulation diagnosed AD-D from AD. MiR-484 expression was correlated with amyloid β -protein 1-42 ( r = 0.682), total tau ( r = -0.575), Mini-Mental State Examination score ( r = 0.593), and Hamilton depression rating scale score ( r = -0.709). MiR-484 was a risk factor for depression in AD. In the depression mouse model, miR-484 overexpression ameliorated depression-like behaviors (sucrose preference, forced swim immobility time, locomotor activity) by regulating PDGFA.Conclusion: Downregulated miR-484 expression, correlating with cognitive function and depression degree, showed a diagnostic value on AD and AD-D. MiR-484 attenuated the CRS-induced depression-like behavior by regulating PDGFA.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":" ","pages":"69-80"},"PeriodicalIF":1.4,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146143467","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

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 : 2026-04-28 DOI: 10.1097/YPG.0000000000000419

Vildan Ak, Husna Kaan, Ali Karayagmurlu

引用次数: 0

Familial co-occurrence of autism spectrum disorder and 47 XYY syndrome: revisiting the role of Y chromosome dosage in neurodevelopment. 自闭症谱系障碍和47xyy综合征家族共发：Y染色体剂量在神经发育中的作用

IF 1.4 4区医学

Psychiatric Genetics Pub Date : 2026-04-06 DOI: 10.1097/YPG.0000000000000418

Mehri Durak, Halenur Teke

引用次数: 0

Prenatal diagnosis and genetic counseling for three cases of fetuses with low-level mosaic Turner syndrome. 低水平马赛克特纳综合征胎儿的产前诊断和遗传咨询3例。

IF 1.4 4区医学

Psychiatric Genetics Pub Date : 2026-03-17 DOI: 10.1097/YPG.0000000000000414

Hongbo Dai, Quanlun Li, Yan Quan

引用次数: 0

Diagnosis and follow-up of a PCDH19 epilepsy patient. 1例PCDH19癫痫患者的诊断与随访。

IF 1.4 4区医学

Psychiatric Genetics Pub Date : 2026-03-01 Epub Date: 2025-11-05 DOI: 10.1097/YPG.0000000000000404

Yanzhao Chen, Yaming Xia, Lipeng Chen, Zhiping Liu, Bo Li, Keying Zhou, Yongjian Yue

{"title":"Diagnosis and follow-up of a PCDH19 epilepsy patient.","authors":"Yanzhao Chen, Yaming Xia, Lipeng Chen, Zhiping Liu, Bo Li, Keying Zhou, Yongjian Yue","doi":"10.1097/YPG.0000000000000404","DOIUrl":"10.1097/YPG.0000000000000404","url":null,"abstract":"Objective: Developmental and epileptic encephalopathy 9 (DEE9) is an X-linked genetic disorder characterized by the onset of seizures during infancy. Mutations in protocadherin 19 ( PCDH19 ) are the main cause of DEE9. Our study aims to demonstrate the diagnostic process and long-term follow-up of a female pediatric case presenting with recurrent seizures.Methods: In the present study, a female child presented with recurrent epileptic seizures and findings of abnormal synchronous discharges on electroencephalograms. Whole exome sequencing (WES) was performed on the proband and her parents to identify potential genetic variants.Results: A heterozygous variant (NM_001105243: c.695A>G) in PCDH19 was identified and validated using Sanger sequencing. Based on clinical features and genetic analyses, the patient was diagnosed with PCDH19 -female limited epilepsy. Furthermore, a 4-year follow-up was conducted to assess the impact of the pathogenic variant on phenotype and treatment outcomes. The patient exhibited normal intelligence, which differed with the clinical features reported in other studies involving the same variant.Conclusion: WES confirmed the diagnosis of DEE9, and subsequent follow-up highlighted the effectiveness of the treatment. Therefore, genetic testing can improve the diagnosis of DEE9, particularly in cases with atypical symptoms, and provide valuable insights for genetic counseling and clinical treatment strategies.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":" ","pages":"26-31"},"PeriodicalIF":1.4,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12834272/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145452638","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

Functional evaluation of NAA10 variants in patients with Ogden syndrome. 奥格登综合征患者NAA10变异的功能评价。

IF 1.4 4区医学

Psychiatric Genetics Pub Date : 2026-03-01 Epub Date: 2025-12-09 DOI: 10.1097/YPG.0000000000000409

Aydeniz Aydin Gumus, Mustafa Dogan, Alper Gezdirici, Ekrem Akbulut, Duygu Kinay Ermis

{"title":"Functional evaluation of NAA10 variants in patients with Ogden syndrome.","authors":"Aydeniz Aydin Gumus, Mustafa Dogan, Alper Gezdirici, Ekrem Akbulut, Duygu Kinay Ermis","doi":"10.1097/YPG.0000000000000409","DOIUrl":"10.1097/YPG.0000000000000409","url":null,"abstract":"Objectives: The catalytic subunit of NatA, the main component of the N-terminal acetyltransferase complex, which is involved in most of the acetylation of the human proteome, is encoded by the NAA10 gene. Mutations in the NAA10 gene lead to neurodegenerative diseases associated with disruption of acetylation. Ogden syndrome (OS) is a rare X-linked recessive or dominantly inherited disorder associated with NAA10 gene mutations, characterized by variable findings such as autism spectrum disorder, intellectual disability, and cardiac anomalies. In this article, it is aimed to clarify the functionality of two novel NAA10 gene variants in two female patients with OS.Methods: A whole-exome sequencing (WES) study was performed from the blood samples of the patients. The effects of the two variants found by tertiary structure modeling, protein stability analysis, and molecular docking analyses on NAA10 were examined.Results: Autism, intellectual retardation, and epilepsy were prominent in the patients, and heterozygous variants c.346C>T and c.439A>T in the NAA10 gene were detected in WES. The clinical findings were compatible with OS. The p.Arg116Trp and p.Met147Leu changes in the NAA10 gene caused changes in the overall topological structure of NAA10, including the substrate and ligand binding site.Conclusion: In this study, c.346C>T and c.439A>T variants were found to alter the functional stability, structure, and energy of NAA10. Functional analyses of NAA10 variants in two rare OS patients have once again demonstrated that novel variants are essential studies for phenotype-genotype correlation association steps.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":" ","pages":"42-50"},"PeriodicalIF":1.4,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145744155","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