Psychiatric Genetics最新文献

Adult-onset metachromatic leukodystrophy: a novel genotype with a distinct phenotype. 成人发病的异色性脑白质营养不良：一种具有独特表型的新基因型。

IF 1.5 4区医学

Psychiatric Genetics Pub Date : 2025-06-01 Epub Date: 2025-03-19 DOI: 10.1097/YPG.0000000000000387

Levent Şimşek, Sena Özden, Mehmet Ak, Mahmut Selman Yildirim

{"title":"Adult-onset metachromatic leukodystrophy: a novel genotype with a distinct phenotype.","authors":"Levent Şimşek, Sena Özden, Mehmet Ak, Mahmut Selman Yildirim","doi":"10.1097/YPG.0000000000000387","DOIUrl":"10.1097/YPG.0000000000000387","url":null,"abstract":"Background: Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by the deficiency of arylsulfatase A (ARSA). Accumulation of sulfatide, substrate of ARSA, in the central and peripheral nervous system causes neurodegeneration, which leads to neurologic and psychiatric symptoms. Adult-onset MLD is the least frequent type of MLD and shows both genetic and clinical heterogeneity. The clinical presentation differs according to pathogenic variants in the ARSA gene. Therefore, establishing genotype-phenotype correlation is crucial for the diagnosis and management of patients with adult-onset MLD.Methods: A family of multiple individuals with adult-onset psychomotor deterioration was assessed. The patients had behavioral disturbances initially, and neurological deficits had developed in the later stages of the disease. The family was analyzed using karyotype analysis, Sanger sequencing, custom next-generation sequencing (NGS) panel of the genes related to dementia, and whole exome sequencing (WES).Results: Karyotype analysis and NGS dementia panel showed no pathogenic aberration. However, WES analysis revealed heterozygous variants in the ARSA gene: c.542T>G (p.Ile181Ser) and c.661T>A (p.Phe221Ile). Segregation analysis, performed by Sanger sequencing, showed that all individuals with the same clinical findings were compound heterozygous for c.542T>G and c.661T>A substitutions.Conclusion: The compound heterozygosity of c.542T>G and c.661T>A variants of the ARSA gene cause adult-onset MLD. The genotype detected in the patients was not reported before in the literature. Moreover, the clinical course of the patients followed a similar pattern with dominantly psychiatric symptoms at the initial stage of the disease, indicating a distinct phenotype caused by the two pathogenic variants of the ARSA gene.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":" ","pages":"44-50"},"PeriodicalIF":1.5,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143721183","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

Investigation of cytochrome B mutations, and UCP2 and STC1 gene expressions in patients with bipolar disorder. 双相情感障碍患者细胞色素B突变、UCP2和STC1基因表达的研究。

IF 1.5 4区医学

Psychiatric Genetics Pub Date : 2025-06-01 Epub Date: 2025-04-08 DOI: 10.1097/YPG.0000000000000389

Sevgi Karabulut Uzunçakmak, Halil Özcan, Ebubekir Dirican

{"title":"Investigation of cytochrome B mutations, and UCP2 and STC1 gene expressions in patients with bipolar disorder.","authors":"Sevgi Karabulut Uzunçakmak, Halil Özcan, Ebubekir Dirican","doi":"10.1097/YPG.0000000000000389","DOIUrl":"10.1097/YPG.0000000000000389","url":null,"abstract":"Objective: The aim herein was to investigate mitochondrial cytochrome B (MT-CYB) mutations in individuals with bipolar disorder. Stanniocalcin-1 ( STC1 ) and uncoupling protein 2 ( UCP2 ) mRNA expressions and their relationship with clinical data and each other were also investigated.Method: The blood samples of 100 individuals were included in this study. Real-time PCR was used to evaluate mRNA expressions of STC1 and UCP2 . Genetic alterations were investigated via Sanger DNA sequencing. An in silico analysis was performed to reveal the phenotypic effects of MT-CYB mutations.Results: In the MT-CYB gene of the bipolar disorder patients, the most seen mutations were the T194A A>G mutation at position 1532, G deletion at position 15498, and C>A L236I mutation at position 15452. Most of the mutations appeared to be neutral or benign. The UCP2 and STC1 mRNA expression levels were significantly higher in the patients than in the healthy controls ( P = 0.0124 and P < 0.0001, respectively). The area under the curve values of the receiver operating characteristic curve analysis for UCP2 and STC1 were 0.6631 ( P = 0.0123) and 0.8059 ( P < 0.0001), respectively. No significant relationship was observed between the gene expressions and the routine laboratory findings. There was a positive correlation between the UCP2 and STC1 mRNA expressions in the bipolar disorder patients ( r = 0.03559, P = 0.0306).Conclusion: Expression of UCP2 and STC1 may be important parameters in bipolar disorder. MT-CYB mutations may be related to gene expressions. Comprehensive studies on bipolar disorder will help better understand UCP2 and STC1 gene functions.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":" ","pages":"58-68"},"PeriodicalIF":1.5,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144053681","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

How the human genome project has increased the prevalence of pseudoschizophrenia and decreased the prevalence of true schizophrenia? 人类基因组计划如何增加了假性精神分裂症的患病率并降低了真正精神分裂症的患病率？

IF 1.5 4区医学

Psychiatric Genetics Pub Date : 2025-06-01 Epub Date: 2025-04-29 DOI: 10.1097/YPG.0000000000000383

João Gama Marques, Josef Finsterer

引用次数: 0

A case of CHD2 variant-associated psychosis and response to treatment. CHD2变异相关精神病1例及对治疗的反应。

IF 1.5 4区医学

Psychiatric Genetics Pub Date : 2025-06-01 Epub Date: 2025-03-21 DOI: 10.1097/YPG.0000000000000388

Mark A Colijn, Iliana Ortega, Julie Lauzon

引用次数: 0

A nonsense variant in the C-terminal transactivation domain of the EBF3 gene in an individual with intellectual disability and behavioural disorder: case report and literature review. 智力残疾和行为障碍患者EBF3基因c端反激活域的无义变异：病例报告和文献综述

IF 1.5 4区医学

Psychiatric Genetics Pub Date : 2025-06-01 Epub Date: 2025-02-28 DOI: 10.1097/YPG.0000000000000386

Samira Spineli-Silva, Nicole de Leeuw, Larissa B Pontes, Nico Leijsten, Martina Ruiterkamp-Versteeg, Joana R M Prota, Antonia P Marques-de-Faria, Társis P Vieira

{"title":"A nonsense variant in the C-terminal transactivation domain of the EBF3 gene in an individual with intellectual disability and behavioural disorder: case report and literature review.","authors":"Samira Spineli-Silva, Nicole de Leeuw, Larissa B Pontes, Nico Leijsten, Martina Ruiterkamp-Versteeg, Joana R M Prota, Antonia P Marques-de-Faria, Társis P Vieira","doi":"10.1097/YPG.0000000000000386","DOIUrl":"10.1097/YPG.0000000000000386","url":null,"abstract":"Heterozygous variants in the Early B cell factor 3 ( EBF3 ) have been reported in individuals presenting with hypotonia, ataxia and delayed development syndrome (HADDS) (MIM#617330). However, individuals with pathogenic variants in EBF3 show phenotypic heterogeneity and very few variants in the C-terminal domain have been described. We report on a heterozygous de-novo variant in the EBF3 gene in an individual with neurodevelopmental delay and behavioural problems. The proband presented with speech delay, learning disability and behavioural problems that suggest an oppositional defiant disorder. He also has hyperactivity, irritability, hetero-aggressiveness, visual hallucinations, insomnia and decreased pain sensitivity. Whole exome sequencing revealed a de-novo heterozygous nonsense variant - c.1408C>T (p.Arg470*) - in the EBF3 gene, classified as pathogenic. The patient herein described, with a truncating variant in the C-terminal domain of EBF3 , supports the clinical variability of this condition and contributes to genotype-phenotype correlation of this rare disorder.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":" ","pages":"75-78"},"PeriodicalIF":1.5,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143617044","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

Prenatal diagnosis and genetic counseling of a Chinese family with inherited multiple chromosomal microduplications. 一个中国家族遗传性多染色体微重复的产前诊断与遗传咨询。

IF 1.5 4区医学

Psychiatric Genetics Pub Date : 2025-06-01 Epub Date: 2025-03-21 DOI: 10.1097/YPG.0000000000000391

Fang Hu, Guoqiong Zhang

{"title":"Prenatal diagnosis and genetic counseling of a Chinese family with inherited multiple chromosomal microduplications.","authors":"Fang Hu, Guoqiong Zhang","doi":"10.1097/YPG.0000000000000391","DOIUrl":"10.1097/YPG.0000000000000391","url":null,"abstract":"Background: Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. Chromosomal microdeletions and microduplications have long been associated with abnormal developmental outcomes. Recently, the application of CNV sequencing (CNV-seq) is rapidly identifying new recurrent microdeletion and microduplication syndromes and a previously unsuspected level of copy number variation which needs to be distinguished from pathogenic change.Materials and methods: In this research, a 26-year-old, gravida 1, para 0, woman underwent amniocentesis at 18 weeks of gestation. Cytogenetic analysis of the cultured amniocytes and CNV-seq on uncultured amniocytes was performed. After that, we performed trio whole-exome sequencing (WES) on the family.Results: CNV-seq detected three chromosomal microduplications in the fetus, respectively are 2p16.1p15, 6q27, and 9p22.3. The microduplication of 2p16.1p15 is inherited from the mother, and the microduplication of 6q27 and 9p22.3 comes from the father. After genetic counseling, the parents decided to continue the pregnancy.Conclusion: We present a rare case of a Chinese family with inherited multiple chromosomal microduplications with normal phenotype. Our case can be helpful for prenatal diagnosis and genetic counseling. Chromosomal microdeletions and microduplications are difficult to detect by conventional cytogenetics. Combination of prenatal ultrasound, karyotype analysis, CNV-seq, trio-WES, and genetic counseling is helpful for the prenatal diagnosis of chromosomal microdeletions/microduplications.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":" ","pages":"69-74"},"PeriodicalIF":1.5,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143721196","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

Phenotypic heterogeneity and genomic findings in psychiatry: do not throw the baby out with the bathwater. 精神病学的表型异质性和基因组发现：不要把婴儿连同洗澡水一起倒掉。

IF 1.5 4区医学

Psychiatric Genetics Pub Date : 2025-06-01 Epub Date: 2025-04-29 DOI: 10.1097/YPG.0000000000000384

Mirko Manchia

引用次数: 0

A review of antipsychotic therapy effectiveness and tolerability among individuals with copy number variants relevant to schizophrenia. 与精神分裂症相关的拷贝数变异个体的抗精神病治疗效果和耐受性的综述。

IF 1.5 4区医学

Psychiatric Genetics Pub Date : 2025-06-01 Epub Date: 2025-03-25 DOI: 10.1097/YPG.0000000000000392

Mark A Colijn

引用次数: 0

Reflections on schizophrenia and genetics: a response to Gama Marques and Finsterer. 精神分裂症和遗传学的反思：对伽马·马奎斯和芬斯特尔的回应。

IF 1.5 4区医学

Psychiatric Genetics Pub Date : 2025-06-01 Epub Date: 2025-04-29 DOI: 10.1097/YPG.0000000000000382

Luis M Rojo-Bofill, Cecilia Sanjuan-Ortiz, Monica Rosello, Carmen Orellana, Carmen Iranzo-Tatay

引用次数: 0

The diagnostic significance of miR-20b-5p in schizophrenia and its impact on the symptoms of schizophrenia. miR-20b-5p在精神分裂症中的诊断意义及其对精神分裂症症状的影响

IF 1.5 4区医学

Psychiatric Genetics Pub Date : 2025-06-01 Epub Date: 2025-04-08 DOI: 10.1097/YPG.0000000000000393

Jianhui Li, Yao Cheng, Wei Lu

引用次数: 0