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American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics

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https://www.readbyqxmd.com/read/30421579/psmd12-haploinsufficiency-in-a-neurodevelopmental-disorder-with-autistic-features
#1
Raida Khalil, Connor Kenny, R Sean Hill, Ganeshwaran H Mochida, Ramzi Nasir, Jennifer N Partlow, Brenda J Barry, Muna Al-Saffar, Chloe Egan, Christine R Stevens, Stacey B Gabriel, A James Barkovich, Jay W Ellison, Lihadh Al-Gazali, Christopher A Walsh, Maria H Chahrour
Protein homeostasis is tightly regulated by the ubiquitin proteasome pathway. Disruption of this pathway gives rise to a host of neurological disorders. Through whole exome sequencing (WES) in families with neurodevelopmental disorders, we identified mutations in PSMD12, a core component of the proteasome, underlying a neurodevelopmental disorder with intellectual disability (ID) and features of autism spectrum disorder (ASD). We performed WES on six affected siblings from a multiplex family with ID and autistic features, the affected father, and two unaffected mothers, and a trio from a simplex family with one affected child with ID and periventricular nodular heterotopia...
November 13, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/30411855/drd4-methylation-as-a-potential-biomarker-for-physical-aggression-an-epigenome-wide-cross-tissue-investigation
#2
Charlotte A M Cecil, Esther Walton, Jean-Baptiste Pingault, Nadine Provençal, Irene Pappa, Frank Vitaro, Sylvana Côté, Moshe Szyf, Richard E Tremblay, Henning Tiemeier, Essi Viding, Eamon J McCrory
Epigenetic processes that regulate gene expression, such as DNA methylation (DNAm), have been linked to individual differences in physical aggression. Yet, it is currently unclear whether: (a) DNAm patterns in humans associate with physical aggression independently of other co-occurring psychiatric and behavioral symptoms; (b) whether these patterns are observable across multiple tissues; and (c) whether they may function as a causal versus noncausal biomarker of physical aggression. Here, we used a multisample, cross-tissue design to address these questions...
November 9, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/30411484/biomarkers-for-major-depressive-and-bipolar-disorders-using-metabolomics-a-systematic-review
#3
REVIEW
Kellie MacDonald, Ankur Krishnan, Emily Cervenka, Grace Hu, Elena Guadagno, Yannis Trakadis
Major depressive disorder (MDD) and bipolar disorder (BD) lack robust biomarkers useful for screening purposes in a clinical setting. A systematic review of the literature was conducted on metabolomic studies of patients with MDD or BD through the use of analytical platforms such as in vivo brain imaging, mass spectrometry, and nuclear magnetic resonance. Our search identified a total of 7,590 articles, of which 266 articles remained for full-text revision. Overall, 249 metabolites were found to be dysregulated with 122 of these metabolites being reported in two or more of the studies included...
November 8, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/30381879/gene-level-associations-in-suicide-attempter-families-show-overrepresentation-of-synaptic-genes-and-genes-differentially-expressed-in-brain-development
#4
Marcus Sokolowski, Jerzy Wasserman, Danuta Wasserman
Suicidal behavior (SB) has a complex etiology involving different polygenic and environmental components. Here we used an excess of significant markers (ESM) test to study gene-level associations in previous genome-wide association studies (GWAS) SNP data from a family-based sample, having medically severe suicide attempt (SA) as main outcome in the offspring. In SA without major psychiatric disorders (N = 498), a screening of 5,316 genes across the genome suggested association 17 genes (at fdr < 0...
October 31, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/30381872/introduction-to-special-section-on-leveraging-electronic-health-records-for-psychiatric-genetic-research
#5
EDITORIAL
Anjené M Addington
No abstract text is available yet for this article.
October 31, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/30378268/association-of-alzheimer-s-genetic-loci-with-mild-behavioral-impairment
#6
Shea J Andrews, Zahinoor Ismail, Kaarin J Anstey, Moyra Mortby
Mild behavioral impairment (MBI) describes the emergence of later-life neuropsychiatric symptoms (NPS) as an at-risk state for incident cognitive decline and dementia, and for some as a potential manifestation of prodromal dementia. How NPS mechanistically link to the development of mild cognitive impairment and Alzheimer's disease (AD) is not fully understood, with potential mechanisms including shared risk factors related to both NPS and cognitive impairment, or AD pathology promoting NPS. This is the first exploratory study to examine whether AD genetic loci as a genetic risk score (GRS), or individually, are a shared risk factor with MBI...
October 30, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/30378261/exome-sequencing-of-sporadic-childhood-onset-schizophrenia-suggests-the-contribution-of-x-linked-genes-in-males
#7
Amirthagowri Ambalavanan, Boris Chaumette, Sirui Zhou, Pingxing Xie, Qin He, Dan Spiegelman, Alexandre Dionne-Laporte, Cynthia V Bourassa, Martine Therrien, Daniel Rochefort, Lan Xiong, Patrick A Dion, Ridha Joober, Judith L Rapoport, Simon L Girard, Guy A Rouleau
Childhood-onset schizophrenia (COS) is a rare and severe form of schizophrenia, defined as having an onset before the age of 13. The male COS cases have a slightly younger age of onset than female cases. They also present with a higher rate of comorbid developmental disorders. These sex differences are not explained by the frequency of chromosomal abnormalities, and the contribution of other forms of genetic variations remains unestablished. Using a whole-exome sequencing approach, we examined 12 COS trios where the unaffected parents had an affected male child...
October 30, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/30358070/characterization-of-speech-and-language-phenotype-in-children-with-nrxn1-deletions
#8
Amanda Brignell, Miya St John, Amber Boys, Amanda Bruce, Carla Dinale, Lauren Pigdon, Michael S Hildebrand, David J Amor, Angela T Morgan
Neurexin 1 gene (NRXN1) deletions are associated with several neurodevelopmental disorders. Communication difficulties have been reported, yet no study has examined specific speech and language features of individuals with NRXN1 deletions. Here, we characterized speech and language phenotypes in 21 children (14 families), aged 1.8-17 years, with NRXN1 deletions. Deletions ranged from 74 to 702 kb and consisted mostly of either exons 1-3 or 1-5. Speech sound disorders were frequent (69%), although few were severe...
October 25, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/30358063/psychiatric-genetics-researchers-views-on-offering-return-of-results-to-individual-participants
#9
Kristin M Kostick, Cody Brannan, Stacey Pereira, Gabriel Lázaro-Muñoz
In the middle of growing consensus that genomics researchers should offer to return clinically valid, medically relevant, and medically actionable findings identified in the course of research, psychiatric genetics researchers face new challenges. As they uncover the genetic architecture of psychiatric disorders through genome-wide association studies and integrate whole genome and whole exome sequencing to their research, there is a pressing need for examining these researchers' views regarding the return of results (RoR) and the unique challenges for offering RoR from psychiatric genetics research...
October 25, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/30350918/blood-based-dynamic-genomic-signature-for-obsessive-compulsive-disorder
#10
Yuan Wang, Changming Cheng, Zongfeng Zhang, Jianyu Wang, Yao Wang, Xiaoping Li, Rui Gao, Zhen Wang, Yiru Fang, Jijun Wang, Min Wang, Qing Fan, Sanggetha Periya, Haiyin Zhang, Ming T Tsuang, Choong-Chin Liew
No biologically based diagnostic criteria are in clinical use today for obsessive-compulsive disorder (OCD), schizophrenia, and major depressive disorder (MDD), which are defined with reference to Diagnostic and Statistical Manual clinical symptoms alone. However, these disorders cannot always be well distinguished on clinical grounds and may also be comorbid. A biological blood-based dynamic genomic signature that can differentiate among OCD, MDD, and schizophrenia would therefore be of great utility. This study enrolled 77 patients with OCD, 67 controls with no psychiatric illness, 39 patients with MDD, and 40 with schizophrenia...
October 23, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/30345710/genotype-phenotype-correlations-in-darier-disease-a-focus-on-the-neuropsychiatric-phenotype
#11
Katherine Gordon-Smith, Elaine Green, Detelina Grozeva, Sherine Tavadia, Nick Craddock, Lisa Jones
Darier disease (DD) is an autosomal dominant skin disorder caused by mutations in ATP2A2 encoding the sarco/endoplasmic reticulum Ca2+ ATPase Isoform 2 (SERCA2). Evidence of a population-level association between DD and psychiatric disorders suggests that mutations in ATP2A2 may have pleiotropic effects on the brain as well as skin. Evidence of genotype-phenotype relationships between ATP2A2 mutations and neuropsychiatric phenotypes would further support this suggestion. We investigated genotype-phenotype correlations between lifetime neuropsychiatric features and ATP2A2 mutation type (dichotomized into likely gene disrupting [LGD] or protein altering) in 75 unrelated individuals with DD...
October 22, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/30345598/expanding-the-phenotype-of-med-17-mutations-description-of-two-new-cases-and-review-of-the-literature
#12
Annalisa Agostini, Daniela Marchetti, Claudia Izzi, Isabella Cocco, Lorenzo Pinelli, Patrizia Accorsi, Rosaria Iascone Maria, Lucio Giordano
We report the case of two siblings presenting with failure to thrive in early years, progressive microcephaly, moderate intellectual disability, developmental delay, ataxic gait and seizures with an identical EEG pattern, and minimal cerebellar atrophy. We ruled out the syndromic and metabolic causes of microcephaly and subsequently conducted a panel of genetic diagnostic tests, including the clinical exome sequencing which revealed compound heterozygous mutations in MED 17 gene in both patients. p.Glu16fs was found to be inherited from the mother and p...
October 22, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/30338900/-like-parent-like-child-attention-deficit-hyperactivity-disorder-like-characteristics-in-parents-of-adhd-cases
#13
Salvador Trejo, Esmeralda Matute, María de Lourdes Ramírez-Dueñas, Adriana P Mendizabal-Ruiz, Yaira Chamorro, José A Morales
The objective of this study was to characterize an attention deficit hyperactivity disorder (ADHD) endophenotype in non-affected parents of adolescents with a history of ADHD, based on the relationship between performance on a sustained attention test (continuous performance task, or CPT) and polymorphisms of the DRD4 gene. In a sample of 25 non-affected parents of adolescents with ADHD history obtained from a longitudinal study of a nonclinical population, and 25 non-affected parents of adolescents with no ADHD history, four groups were evaluated with respect to the presence or absence of the long allele polymorphism of the DRD4 gene (i...
October 19, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/30334356/dna-methylation-of-fkbp5-and-response-to-exposure-based-psychological-therapy
#14
Susanna Roberts, Robert Keers, Gerome Breen, Jonathan R I Coleman, Peter Jöhren, Agnieszka Kepa, Kathryn J Lester, Jürgen Margraf, Silvia Scheider, Tobias Teismann, André Wannemüller, Thalia C Eley, Chloe C Y Wong
Differential DNA methylation of the hypothalamic-pituitary-adrenal axis related gene FKBP5 has recently been shown to be associated with varying response to environmental influences and may play a role in how well people respond to psychological treatments. Participants (n = 111) received exposure-based cognitive behavioural therapy (CBT) for agoraphobia with or without panic disorder, or specific phobias. Percentage DNA methylation levels were measured for the promoter region and intron 7 of FKBP5. The association between percentage reduction in clinical severity and change in DNA methylation was tested using linear mixed models...
October 18, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/30318704/ethnic-variation-of-il-4-intron-3-vntr-gene-polymorphism-its-association-with-type-2-diabetes-mellitus-and-its-complication-neuropathy-in-egyptian-subjects
#15
R Ali, A El-Said, H El-Baz, A Settin
Type 2 diabetes mellitus (T2DM) has multigenetic and environmental interactive factors. Although diabetic neuropathies (DPN) are the most common, but at the same time, the least recognized and understood long-term complication of diabetes. This study aimed to investigate the association of IL-4 VNTR gene polymorphism with T2DM complicated with neuropathy in Egyptian subjects. This is a case control study including 102 T2DM Egyptian patients, plus 188 unrelated healthy individuals as controls. They were evaluated for variable number tandem repeat (VNTR); 70 base pair repeats located in the intron 3; of IL-4 gene using the PCR technique...
October 14, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/30307693/copy-number-variation-and-neuropsychiatric-problems-in-females-and-males-in-the-general-population
#16
Joanna Martin, Kristiina Tammimies, Robert Karlsson, Yi Lu, Henrik Larsson, Paul Lichtenstein, Patrik K E Magnusson
Neurodevelopmental problems (NPs) are more common in males, whereas anxiety and depression are more common in females. Rare copy number variants (CNVs) have been implicated in neurodevelopmental disorders. The aim of this study was to characterize the relationship between rare CNVs with NPs, anxiety, and depression in a childhood population sample, as well as to examine sex-specific effects. We analyzed a sample of N = 12,982 children, of whom 5.3% had narrowly defined NPs (clinically diagnosed), 20.9% had broadly defined NPs (based on validated screening measures, but no diagnosis), and 3...
October 11, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/30307687/biobehavioral-composite-of-social-aspects-of-anxiety-in-young-adults-with-fragile-x-syndrome-contrasted-to-autism-spectrum-disorder
#17
Jane E Roberts, Jordan E Ezell, Amanda J Fairchild, Jessica Klusek, Angela J Thurman, Andrea McDuffie, Leonard Abbeduto
Social anxiety is a common disorder that has negative impacts across multiple domains of function. Several clinical groups are at elevated risk for social anxiety, including those with fragile X syndrome and those with autism spectrum disorder. Measuring social anxiety in these clinical subgroups is fraught with challenge, however, given the complexity of social anxiety and measurement limitations that are particularly acute in persons with neurodevelopmental disorders. The over-arching aim of this study was to contribute to our understanding of the nature of social anxiety in fragile X syndrome and its association with autism spectrum disorder...
October 11, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/30325587/genetic-correlations-among-psychiatric-and-immune-related-phenotypes-based-on-genome-wide-association-data
#18
Daniel S Tylee, Jiayin Sun, Jonathan L Hess, Muhammad A Tahir, Esha Sharma, Rainer Malik, Bradford B Worrall, Andrew J Levine, Jeremy J Martinson, Sergey Nejentsev, Doug Speed, Annegret Fischer, Eric Mick, Brian R Walker, Andrew Crawford, Struan F A Grant, Constantin Polychronakos, Jonathan P Bradfield, Patrick M A Sleiman, Hakon Hakonarson, Eva Ellinghaus, James T Elder, Lam C Tsoi, Richard C Trembath, Jonathan N Barker, Andre Franke, Abbas Dehghan, Stephen V Faraone, Stephen J Glatt
Individuals with psychiatric disorders have elevated rates of autoimmune comorbidity and altered immune signaling. It is unclear whether these altered immunological states have a shared genetic basis with those psychiatric disorders. The present study sought to use existing summary-level data from previous genome-wide association studies to determine if commonly varying single nucleotide polymorphisms are shared between psychiatric and immune-related phenotypes. We estimated heritability and examined pair-wise genetic correlations using the linkage disequilibrium score regression (LDSC) and heritability estimation from summary statistics methods...
October 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/30318722/convergent-analysis-of-genome-wide-genotyping-and-transcriptomic-data-suggests-association-of-zinc-finger-genes-with-lithium-response-in-bipolar-disorder
#19
Claudia Pisanu, Donatella Congiu, Marta Costa, Caterina Chillotti, Raffaella Ardau, Giovanni Severino, Andrea Angius, Urs Heilbronner, Liping Hou, Francis J McMahon, Thomas G Schulze, Maria Del Zompo, Alessio Squassina
Lithium is the mainstay treatment in bipolar disorder (BD) for its effectiveness in the acute phases of illness and in prevention of recurrences. Lithium's mechanism of action is complex, and while it modulates the function of hundreds of molecular targets, most of these effects could be unspecific and not relevant for its clinical efficacy. In this study, we applied an integrated analytical approach using genome-wide expression and genotyping data from BD patients to identify lithium-responsive genes that may serve as biomarkers of its efficacy...
October 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28862395/phelan-mcdermid-syndrome-data-network-integrating-patient-reported-outcomes-with-clinical-notes-and-curated-genetic-reports
#20
Cartik Kothari, Maxime Wack, Claire Hassen-Khodja, Sean Finan, Guergana Savova, Megan O'Boyle, Geraldine Bliss, Andria Cornell, Elizabeth J Horn, Rebecca Davis, Jacquelyn Jacobs, Isaac Kohane, Paul Avillach
The heterogeneity of patient phenotype data are an impediment to the research into the origins and progression of neuropsychiatric disorders. This difficulty is compounded in the case of rare disorders such as Phelan-McDermid Syndrome (PMS) by the paucity of patient clinical data. PMS is a rare syndromic genetic cause of autism and intellectual deficiency. In this paper, we describe the Phelan-McDermid Syndrome Data Network (PMS_DN), a platform that facilitates research into phenotype-genotype correlation and progression of PMS by: a) integrating knowledge of patient phenotypes extracted from Patient Reported Outcomes (PRO) data and clinical notes-two heterogeneous, underutilized sources of knowledge about patient phenotypes-with curated genetic information from the same patient cohort and b) making this integrated knowledge, along with a suite of statistical tools, available free of charge to authorized investigators on a Web portal https://pmsdn...
October 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
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