Psychiatric Genetics最新文献_第10页

Schizophreniform presentation and abrupt neurologic decline in a patient with late-onset mucopolysaccharidosis type IIIB. IIIB型迟发性粘多糖病患者的精神分裂症样表现和神经功能突然下降。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2021-10-01 DOI: 10.1097/YPG.0000000000000294

Yorran Hardman Araújo Montenegro, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar, Ruy Pires de Oliveira Sobrinho, Carlos Eduardo Steiner

{"title":"Schizophreniform presentation and abrupt neurologic decline in a patient with late-onset mucopolysaccharidosis type IIIB.","authors":"Yorran Hardman Araújo Montenegro, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar, Ruy Pires de Oliveira Sobrinho, Carlos Eduardo Steiner","doi":"10.1097/YPG.0000000000000294","DOIUrl":"10.1097/YPG.0000000000000294","url":null,"abstract":"Due to their low frequency and some atypical presentations, inborn errors of metabolism are frequently misdiagnosed or underdiagnosed, which hinders the correct management of these patients. To illustrate that, here we present a patient that, at early school age, had learning disabilities compared to her classmates, especially for writing. She completed basic education in a regular school and was transferred to a secondary school for students with special needs. At 18 years of age, she presented a first psychiatric abrupt outbreak: she spent a month screaming and without sleeping. Behavioral problems then became apparent, especially hyperactivity, destructive and chaotic behavior, anxiety, and auto-aggressivity and hetero-aggressivity. A diagnosis of schizophreniform disorder was established. Clinical genetic evaluation revealed coarse face, macroglossia, coarse thick hair, and mild hepatomegaly, and the hypothesis of mucopolysaccharidosis-III was raised. Laboratory tests indicated high levels of urinary glycosaminoglycans and almost undetectable NAGLU activity, confirming the diagnosis. Sequencing of the NAGLU gene revealed the c.1318G>C (p.Gly440Arg) and c.1834A>G (p.Ser612Gly) mutations.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"31 5","pages":"199-204"},"PeriodicalIF":0.9,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39283342","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: 2

Epigenetic marks in suicide: a review. 自杀的表观遗传学标记：综述。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2021-10-01 DOI: 10.1097/YPG.0000000000000297

Daniel F Ramos-Rosales, Fernando Vazquez-Alaniz, Norma Urtiz-Estrada, Eda G Ramirez-Valles, Edna M Mendez-Hernádez, Alma C Salas-Leal, Marcelo Barraza-Salas

引用次数: 1

Analysis of 200 000 exome-sequenced UK Biobank subjects fails to identify genes influencing probability of developing a mood disorder resulting in psychiatric referral. 200分析 000名外显子组测序的英国生物库受试者未能确定影响发展为情绪障碍的概率的基因，从而导致精神病转诊。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2021-10-01 DOI: 10.1097/YPG.0000000000000282

David Curtis

{"title":"Analysis of 200 000 exome-sequenced UK Biobank subjects fails to identify genes influencing probability of developing a mood disorder resulting in psychiatric referral.","authors":"David Curtis","doi":"10.1097/YPG.0000000000000282","DOIUrl":"10.1097/YPG.0000000000000282","url":null,"abstract":"Background: Depression is moderately heritable but there is no common genetic variant which has a major effect on susceptibility. A previous analysis of 50 000 exome-sequenced subjects failed to implicate any genes or sets of genes in which rare variants were associated with risk of affective disorder requiring specialist treatment. A much larger exome-sequenced dataset is now available.Methods: Data from 200 632 exome-sequenced UK Biobank participants was analysed. Subjects were treated as cases if they had reported having seen a psychiatrist for 'nerves, anxiety, tension or depression'. Gene-wise weighted burden analysis was performed to see if there were any genes or sets of genes for which there was an excess of rare, functional variants in cases.Results: There were 22 886 cases and 176 486 controls. There were 22 642 informative genes but no gene or gene set produced a statistically significant result after correction for multiple testing. None of the genes or gene sets with the lowest P values appeared to be an obvious biological candidate.Conclusions: The results conform exactly with the expectation under the null hypothesis. It seems unlikely that the use of common, poorly defined phenotypes will produce useful advances in understanding genetic contributions to affective disorder and it might be preferable to focus instead on obtaining large exome-sequenced samples of conditions such as bipolar 1 disorder and severe, recurrent depression. This research has been conducted using the UK Biobank Resource.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"31 5","pages":"194-198"},"PeriodicalIF":0.9,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38960786","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: 1

Diverse clinical manifestations of X-linked adrenoleukodystrophy in a Chinese family with identical multisite variants of ABCD1 gene. ABCD1基因具有相同多位点变异的中国家族X连锁肾上腺脑白质营养不良的不同临床表现。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2021-10-01 DOI: 10.1097/YPG.0000000000000292

Lin Zhang, Su Li Zhao, Zhi Hong Wang

{"title":"Diverse clinical manifestations of X-linked adrenoleukodystrophy in a Chinese family with identical multisite variants of ABCD1 gene.","authors":"Lin Zhang, Su Li Zhao, Zhi Hong Wang","doi":"10.1097/YPG.0000000000000292","DOIUrl":"10.1097/YPG.0000000000000292","url":null,"abstract":"Objective: This study summarized the clinical characteristics of X-linked adrenoleukodystrophy (X-ALD) patients in this family, and two different manifestations of the same variants in a Chinese family were reported in this article. That conducted a follow-up study to further clarify the characteristics of this disease.Basic methods: Clinical data and test results were analyzed, and the exon region of ALD-related gene ABCD1 was sequenced by Sanger sequencing.Main results: Gene analysis showed that there were three ABCD1 variants in the proband, c.1047C>A, c.1415-1416delAG and c.1548G>A. The elder brother of the proband had the same three variants as the proband, but showed different clinical symptoms. The mother was the carrier of three variants. Multisite variants were uncovered in this family, which caused two different manifestations of adult-onset childhood cerebral ALD and adrenomyeloneuropathy.Principal conclusion: These findings further increase our knowledge about ABCD1 mutations and the associated phenotypes, which is beneficial for the genetic counseling of patients with X-ALD.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"31 5","pages":"162-167"},"PeriodicalIF":0.9,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39283341","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: 1

Protocol for a pharmacogenetic study of antidepressants: characterization of drug-metabolizing profiles of cytochromes CYP2D6 and CYP2C19 in a Sardinian population of patients with major depressive disorder. 抗抑郁药的药物遗传学研究方案：在撒丁岛重度抑郁症患者群体中细胞色素CYP2D6和CYP2C19的药物代谢特征。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2021-10-01 DOI: 10.1097/YPG.0000000000000293

Marco Pinna, Mirko Manchia, Claudia Pisanu, Federica Pinna, Pasquale Paribello, Andrea Carta, Anna Meloni, Claudio Conversano, Maria Del Zompo, Francesco Mola, Alessio Squassina, Bernardo Carpiniello

{"title":"Protocol for a pharmacogenetic study of antidepressants: characterization of drug-metabolizing profiles of cytochromes CYP2D6 and CYP2C19 in a Sardinian population of patients with major depressive disorder.","authors":"Marco Pinna, Mirko Manchia, Claudia Pisanu, Federica Pinna, Pasquale Paribello, Andrea Carta, Anna Meloni, Claudio Conversano, Maria Del Zompo, Francesco Mola, Alessio Squassina, Bernardo Carpiniello","doi":"10.1097/YPG.0000000000000293","DOIUrl":"10.1097/YPG.0000000000000293","url":null,"abstract":"The effectiveness of antidepressants shows high interindividual variability ranging from full symptomatologic remission to treatment-resistant depression. Many factors can determine the variation in the clinical response, but a fundamental role is played by genetic variation within the genes encoding for the enzymes most involved in the metabolism of antidepressant drugs: the CYP2D6 and CYP2C19 isoforms of the cytochrome P450 system. This study is poised to clarify whether the different metabolizing phenotypes related to CYP2D6 and CYP2C19 could have an impact on the clinical efficacy of antidepressants and whether the frequency of these phenotypes of metabolization shows differences in the population of Sardinian patients compared to other Caucasian populations. The sample is being recruited from patients followed-up and treated at the Psychiatric Unit of the Department of Medical Science and Public Health, University of Cagliari and the University Hospital Agency of Cagliari (Italy). The study design includes three approaches: (1) a pharmacogenetic analysis of 80 patients diagnosed with MDD resistant to antidepressant treatment compared to 80 clinically responsive or remitted patients; (2) a prospective arm (N = 30) of the study where we will test the impact of genetic variation within the CYP2D6 and CYP2C19 genes on clinical response to antidepressants and on their serum levels and (3) the assessment of the socio-economic impact of antidepressant therapies, and estimation of the cost-effectiveness of the pharmacogenetic test based on CYP genes.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"31 5","pages":"186-193"},"PeriodicalIF":0.9,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39201594","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: 1

Nucks1 gene polymorphism rs823114 is associated with the positive symptoms and neurocognitive function of patients with schizophrenia in parts of southern China. Nucks1基因多态性rs823114与中国南方部分地区精神分裂症患者的阳性症状和神经认知功能有关。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2021-08-01 DOI: 10.1097/YPG.0000000000000285

Xia Wen, Xusan Xu, Xudong Luo, Jinwen Yin, Chunmei Liang, Jinyuan Zhu, Xueyan Nong, Xiudeng Zhu, Fan Ning, Shanshan Gu, Susu Xiong, Jiawu Fu, Dongjian Zhu, Zhun Dai, Dong Lv, Zhixiong Lin, Juda Lin, You Li, Guoda Ma, Yajun Wang

{"title":"Nucks1 gene polymorphism rs823114 is associated with the positive symptoms and neurocognitive function of patients with schizophrenia in parts of southern China.","authors":"Xia Wen, Xusan Xu, Xudong Luo, Jinwen Yin, Chunmei Liang, Jinyuan Zhu, Xueyan Nong, Xiudeng Zhu, Fan Ning, Shanshan Gu, Susu Xiong, Jiawu Fu, Dongjian Zhu, Zhun Dai, Dong Lv, Zhixiong Lin, Juda Lin, You Li, Guoda Ma, Yajun Wang","doi":"10.1097/YPG.0000000000000285","DOIUrl":"10.1097/YPG.0000000000000285","url":null,"abstract":"Nuclear casein kinase and cyclin-dependent kinase substrate 1 (nucks1) are considered a potential susceptibility gene for certain neurological diseases, such as Parkinson's disease (PD). In our study, we genotyped three single nucleotide polymorphisms (SNPs) (rs4951261, rs823114 and rs951366) of the nucks1 gene in 774 schizophrenic patients and 819 healthy controls using the improved multiplex ligation detection reaction (imLDR) technique. Furthermore, we also studied the relationship between the above SNPs and the clinical psychiatric symptoms and neurocognitive function of the patients. Genotype distributions and allele frequencies of these SNPs showed no significant differences and were found between patients and healthy controls. However, in an analysis of the positive symptom score of rs823114 among male patients, we found that the score of the A/A genotype was lower than that of the G/A+G/G genotypes (P = 0.001, P(corr) = 0.003]. Additionally, we also found that among the female patients, G allele carriers with rs823114 had lower semantic fluency scores than subjects with the A/A genotype (P = 0.010, P(corr) = 0.030]. Our data show for the first time that rs823114 polymorphism of nucks1 may affect positive symptoms and neurocognitive function in patients with schizophrenia in parts of southern China.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"31 4","pages":"119-125"},"PeriodicalIF":0.9,"publicationDate":"2021-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/d5/2d/pg-31-119.PMC8265546.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39014258","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: 2

A case of White-Sutton syndrome arising from a maternally-inherited mutation in POGZ. 一例由POGZ母系遗传突变引起的White-Satton综合征。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2021-08-01 DOI: 10.1097/YPG.0000000000000288

Siqin Liu, Zhenxing Yan, Yaowei Huang, Wenxia Zheng, Yiting Deng, Yang Zou, Huifang Xie

引用次数: 3

Alexithymia is associated with reduced vitamin D levels, but not polymorphisms of the vitamin D binding-protein gene. 述情障碍与维生素D水平降低有关，但与维生素D结合蛋白基因多态性无关。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2021-08-01 DOI: 10.1097/YPG.0000000000000283

Jan Terock, Anke Hannemann, Antoine Weihs, Deborah Janowitz, Hans J Grabe

{"title":"Alexithymia is associated with reduced vitamin D levels, but not polymorphisms of the vitamin D binding-protein gene.","authors":"Jan Terock, Anke Hannemann, Antoine Weihs, Deborah Janowitz, Hans J Grabe","doi":"10.1097/YPG.0000000000000283","DOIUrl":"10.1097/YPG.0000000000000283","url":null,"abstract":"Objective: Alexithymia is a personality trait characterized by difficulties in identifying and describing emotions, which is associated with various psychiatric disorders, including depression and posttraumatic stress disorder (PTSD). Its pathogenesis is incompletely understood but previous studies suggested that genetic as well as metabolic factors, are involved. However, no results on the role of vitamin D and the polymorphisms rs4588 and rs7041 of the vitamin D binding protein (VDBP) have been published so far.Methods: Serum levels of total 25(OH)D were measured in two general-population samples (total n = 5733) of the Study of Health in Pomerania (SHIP). The Toronto Alexithymia Scale-20 (TAS-20) was applied to measure alexithymia. Study participants were genotyped for rs4588 and rs7041. Linear and logistic regression analyses adjusted for sex, age, waist circumference, physical activity, season and study and, when applicable, for the batch of genotyping and the first three genetic principal components, were performed. In sensitivity analyses, the models were additionally adjusted for depressive symptoms.Results: 25(OH)D levels were negatively associated with TAS-20 scores (β = -0.002; P < 0.001) and alexithymia according to the common cutoff of TAS-20>60 (β = -0.103; P < 0.001). These results remained stable after adjusting for depressive symptoms. The tested genetic polymorphisms were not significantly associated with alexithymia.Conclusions: Our results suggest that low vitamin D levels may be involved in the pathophysiology of alexithymia. Given that no associations between alexithymia and rs4588 as well as rs7041 were observed, indicates that behavioral or nutritional features of alexithymic subjects could also explain this association.","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":"31 4","pages":"126-134"},"PeriodicalIF":0.9,"publicationDate":"2021-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39051796","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: 2

Haploinsufficiency of the HIRA gene may not always produce severe neurodevelopmental consequences. HIRA基因的单倍性可能并不总是产生严重的神经发育后果。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2021-08-01 DOI: 10.1097/YPG.0000000000000284

David Curtis

引用次数: 1

Psychosis symptoms associated with Niemann-Pick disease type C. 与C型尼曼-匹克病相关的精神病症状。

IF 0.9 4区医学

Psychiatric Genetics Pub Date : 2021-08-01 DOI: 10.1097/YPG.0000000000000286

Leong Tung Ong

引用次数: 2