American Journal of Medical Genetics Part B: Neuropsychiatric Genetics This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

A genome ‐wide quantitative trait locus (QTL) linkage scan of NEO personality factors in Latino families segregating bipolar disorder
Personality traits have been suggested as potential endophenotypes for Bipolar Disorder (BP), as they can be quantitatively measured and show correlations with BP. The present study utilized data from 2,745 individuals from 686 extended pedigrees originally ascertained for having multiplex cases of BP (963 cases of BPI or schizoaffective BP). Subjects were assessed with the NEO Personality Inventory, Revised (NEO PI‐R) and genotyped using the Illumina HumanLinkage‐24 Bead Chip, with an average genetic coverage of 0.67 cM. Two point linkage scores were calculated for each trait as a quantitative variable using SOLAR (...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - May 29, 2017 Category: Genetics & Stem Cells Authors: Byung Dae Lee, Suzanne Gonzalez, Erika Villa, Cynthia Camarillo, Marco Rodriguez, Yin Yao, Wei Guo, Deborah Flores, Alvaro Jerez, Henriette Raventos, Alfonso Ontiveros, Humberto Nicolini, Michael Escamilla Tags: RESEARCH ARTICLE Source Type: research

Neuregulin 3 and its roles in schizophrenia risk and presentation
Neuregulins, a four‐member family of epidermal growth factor‐like signaling molecules, have been studied for over two decades. They were first implicated in schizophrenia in 2002 with the detection of linkage and association at the NRG1 locus followed after a few years by NRG3. However, the associations with disease have not been very consistently observed. In contrast, association of NGR3 variants with disease presentation, specifically the presence of delusions, has been more consistent. This appears to be mediated by quantitative changes in the alternative splicing of the gene, which has also been consistently obser...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - May 29, 2017 Category: Genetics & Stem Cells Authors: Dimitrios Avramopoulos Tags: REVIEW ARTICLE Source Type: research

Glucocerebrosidase mutations and neuropsychiatric phenotypes in Parkinson's disease and Lewy body dementias: Review and meta ‐analyses
Heterozygous mutations in glucocerebrosidase gene (GBA) are a major genetic risk factor for Parkinson's disease (PD) and dementia with Lewy bodies (DLB). Recently, there has been a considerable focus on the relationship between GBA mutations and emergence of cognitive impairment and neuropsychiatric symptoms in these diseases. Here, we review the literature in this area, with a particular focus, including meta‐analysis, on the key neuropsychiatric symptoms of cognitive impairment, psychosis, and depression in Parkinson's disease. Our meta‐analysis demonstrated that GBA mutations are associated with a 2.4‐fold increas...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - May 26, 2017 Category: Genetics & Stem Cells Authors: Byron Creese, Emily Bell, Iskandar Johar, Paul Francis, Clive Ballard, Dag Aarsland Tags: REVIEW ARTICLE Source Type: research

A gene ‐based review of RGS4 as a putative risk gene for psychiatric illness
Considerable efforts have been made to characterize RGS4 as a potential candidate gene for schizophrenia. Investigations span across numerous modalities and include explorations of genetic risk associations, mRNA and protein levels in the brain, and functionally relevant interactions with other candidate genes as well as links to schizophrenia relevant neural phenotypes. While these lines of investigations have yielded partially inconsistent findings, they provide a perspective on RGS4 as an important part of a larger biological system contributing to schizophrenia risk. This gene‐based review aims to provide a comprehen...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - May 25, 2017 Category: Genetics & Stem Cells Authors: Emanuel Schwarz Tags: REVIEW ARTICLE Source Type: research

Genetic influences on ADHD symptom dimensions: Examination of a priori candidates, gene ‐based tests, genome‐wide variation, and SNP heritability
Although the heritability of ADHD is estimated to be high, identifying specific genetic markers remains challenging. Most studies to date have examined the genetic basis of ADHD by employing dichotomous diagnostic phenotypes, but, as ADHD symptoms tend to be phenotypically dimensional, an alternative and potentially informative approach is to examine continuous indices of inattention and hyperactivity‐impulsivity symptoms. The current study aimed to identify genetic effects on dimensionally‐focused adult ADHD‐related phenotypes in 990 individuals of European ancestry with intentionally low levels of substance misuse ...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - May 16, 2017 Category: Genetics & Stem Cells Authors: L. Cinnamon Bidwell, Joshua C. Gray, Jessica Weafer, Abraham A. Palmer, Harriet de Wit, James MacKillop Tags: RESEARCH ARTICLE Source Type: research

Visuoperceptual processing in children with neurofibromatosis type 1: True deficit or artefact?
Impairments in visuoperceptual processing have long been considered a hallmark deficit of individuals with Neurofibromatosis type 1 (NF1). However, it is unclear which specific visuoperceptual subprocesses are impaired and whether impairments on these tasks really result from visuoperceptual impairments or rather from confounding factors like Executive Functioning (EF) impairments, lower intelligence (IQ) and/or co‐occurring symptoms of Autism Spectrum Disorder (ASD). To answer these questions, we administered four visuoperceptual tasks and two control tasks in 39 children with NF1, 52 typically developing children and 5...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - May 16, 2017 Category: Genetics & Stem Cells Authors: Lien Van Eylen, Ellen Plasschaert, Johan Wagemans, Bart Boets, Eric Legius, Jean Steyaert, Ilse Noens Tags: Research Article Source Type: research

Issue Information ‐ TOC
(Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - May 16, 2017 Category: Genetics & Stem Cells Tags: Issue Information ‐ TOC Source Type: research

Cover Image, Volume 174B, Number 4, June 2017
(Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - May 16, 2017 Category: Genetics & Stem Cells Tags: Cover Image Source Type: research

Delusional and psychotic disorders in juvenile myotonic dystrophy type ‐1
We investigated the clinically derived hypothesis of a relatively high incidence of delusional and psychotic disorders in adolescents with juvenile Myotonic Dystrophy type‐1 (DM1). Twenty‐seven subjects of age 16–25 with juvenile DM1 and their parents were invited to have a clinical psychiatric interview, and to complete an ASEBA behavior checklist (YSR, ASR, CBCL, and ABCL). We diagnosed a Delusional Disorder in 19% of our patients and a Psychotic Disorder not otherwise specified in another 19%. These two groups of patients had a significantly worse level of clinically defined general functioning. It is clinically r...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - April 27, 2017 Category: Genetics & Stem Cells Authors: Delphine Jacobs, Diane Willekens, Christine de Die ‐Smulders, Jean‐Pierre Frijns, Jean Steyaert Tags: Research Article Source Type: research

Genetic and environmental contributions to the association between ADHD and affective problems in early childhood —A Swedish population‐based twin study
Few twin studies have explored the relative contribution of genetic and environmental factors to the association between attention deficit hyperactivity disorder (ADHD) and affective problems, and no study has focused on preschool children. We used the classical twin design to explore the genetic and environmental overlap between ADHD symptoms and affective problems in preschool children, based on 879 five‐year‐old twin pairs born in Sweden 2004–2005. Questionnaire‐based parent‐ratings were used to measure ADHD symptoms and affective problems. A bivariate twin design was used to decompose variance in ADHD and aff...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - April 24, 2017 Category: Genetics & Stem Cells Authors: Mina Rydell, Mark J. Taylor, Henrik Larsson Tags: RESEARCH ARTICLE Source Type: research

A common genetic variant in FOXP2 is associated with language ‐based learning (dis)abilities: Evidence from two Italian independent samples
Language‐based Learning Disabilities (LLDs) encompass a group of complex, comorbid, and developmentally associated deficits in communication. Language impairment and developmental dyslexia (DD) represent the most recognized forms of LLDs. Substantial genetic correlations exist between language and reading (dis)abilities. Common variants in the FOXP2 gene were consistently associated with language‐ and reading‐related neuropsychological and neuroanatomical phenotypes. We tested the effect of a FOXP2 common variant, that is, rs6980093 (A/G), on quantitative measures of language and reading in two independent Italian sa...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - April 24, 2017 Category: Genetics & Stem Cells Authors: Alessandra Mozzi, Valentina Riva, Diego Forni, Manuela Sironi, Cecilia Marino, Massimo Molteni, Stefania Riva, Franca R. Guerini, Mario Clerici, Rachele Cagliani, Sara Mascheretti Tags: RESEARCH ARTICLE Source Type: research

Whole genome sequence association and ancestry ‐informed polygenic profile of EEG alpha in a Native American population
EEG alpha activity is the dominant oscillation in most adult humans, is highly heritable, and has been associated with a number of cognitive functions. Two EEG phenotypes, low‐ and high‐voltage alpha (LVA & HVA), have been demonstrated to have high heritabilities. They have different prevalence depending on a population's ancestral origins. In the present study we assessed the influence of ancestry admixture on EEG alpha power, and conducted a whole genome sequencing association analysis and an ancestry‐informed polygenic study on those phenotypes in a Native American (NA) population that has a high prevalence of...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - April 24, 2017 Category: Genetics & Stem Cells Authors: Qian Peng, Nicholas J. Schork, Kirk C. Wilhelmsen, Cindy L. Ehlers Tags: RESEARCH ARTICLE Source Type: research

FMR1 genotype interacts with parenting stress to shape health and functional abilities in older age
This study investigated the association of genotype (CGG repeats in FMR1) and the health and well‐being of 5,628 aging adults (mean age = 71) in a population‐based study. Two groups were contrasted: aging parents who had adult children with developmental or mental health disabilities (n = 785; the high‐stress parenting group) and aging parents of healthy children who did not have disabilities (n = 4843; the low‐stress parenting group). There were significant curvilinear interaction effects between parenting stress group and CGG repeats for body mass index and indicators of health and functional limitati...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - April 13, 2017 Category: Genetics & Stem Cells Authors: Marsha Mailick, Jinkuk Hong, Jan Greenberg, Leann Smith Dawalt, Mei Wang Baker, Paul J. Rathouz Tags: Research Article Source Type: research

Familial cases and male cases with MECP2 mutations
This is the first report of Chinese familial cases with Rett syndrome (RTT) or X‐linked mental retardation (XLMR). RTT is a neurodevelopmental disorder that almost exclusively affects females. Most RTT cases are sporadic. We have studied eight cases with MECP2 mutations in six Chinese families, including three females and five males with RTT or XLMR. All shared identical MECP2 mutations with their mothers. The three females fulfilled the diagnostic criteria for RTT, while the five males were XLMR. A random X‐chromosome inactive (XCI) pattern was seen in all the three female patients and two mothers while a skewed XCI i...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - April 10, 2017 Category: Genetics & Stem Cells Authors: Qingping Zhang, Ying Zhao, Xinhua Bao, Jinjun Luo, Xiaoying Zhang, Jiarui Li, Liping Wei, Xiru Wu Tags: RESEARCH ARTICLE Source Type: research

Genetic risk variants for social anxiety
(Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - April 1, 2017 Category: Genetics & Stem Cells Authors: Murray B. Stein, Chia ‐Yen Chen, Sonia Jain, Kevin P. Jensen, Feng He, Steven G. Heeringa, Ronald C. Kessler, Adam Maihofer, Matthew K. Nock, Stephan Ripke, Xiaoying Sun, Michael L. Thomas, Robert J. Ursano, Jordan W. Smoller, Joel Gelernter, Tags: Erratum Source Type: research