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.

OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia
We have ascertained two families affected with familial amyotrophic lateral sclerosis (ALS) in which they both carry a hexanucleotide repeat expansion in the C9orf72 gene, specifically in individuals who also presented with frontotemporal dementia (FTD) or behavioral variant FTD (bvFTD). While some reports attribute this phenotypic heterogeneity to the C9orf72 expansion alone, we screened for additional genetic variation in known ALS‐FTD genes that may also contribute to or modify the phenotypes. We performed genetic testing consisting of C9orf72 hexanucleotide expansion, ATXN2 polyglutamine (polyQ) expansion, and target...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - October 1, 2017 Category: Genetics & Stem Cells Authors: Sali M. K. Farhan, Tania F. Gendron, Leonard Petrucelli, Robert A. Hegele, Michael J. Strong Tags: RESEARCH ARTICLE Source Type: research

Identification of a novel homozygous TRAPPC9 gene mutation causing non ‐syndromic intellectual disability, speech disorder, and secondary microcephaly
TRAPPC9 gene mutations have been linked recently to autosomal recessive mental retardation 13 (MRT13; MIM#613192) with only eight families reported world‐wide. We assessed patients from two consanguineous pedigrees of Pakistani descent with non‐syndromic intellectual disability and postnatal microcephaly through whole exome sequencing (WES) and cosegregation analysis. Here we report six further patients from two pedigrees with homozygous TRAPPC9 gene mutations, the novel nonsense mutation c.2065G>T (p.E689*) and the previously identified nonsense mutation c.1423C>T (p.R475*). We provide an overview of previously ...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - October 1, 2017 Category: Genetics & Stem Cells Authors: Ansar A. Abbasi, Kathrin Blaesius, Hao Hu, Zahid Latif, Sylvie Picker ‐Minh, Muhammad N. Khan, Sundas Farooq, Muzammil A. Khan, Angela M. Kaindl Tags: RESEARCH ARTICLE Source Type: research

A functional polymorphism of the OXTR gene is associated with autistic traits in Caucasian and Asian populations
There is increasing evidence for associations between polymorphisms of the oxytocin receptor (OXTR) gene and autism spectrum disorder, but to date no study has established links with autistic traits in healthy subjects and potential cultural differences. The present research firstly investigated associations between three widely studied OXTR SNPs and autistic and empathic traits (rs53576 (G/A); rs2254298 (G/A); rs2268498 (T/C)) in two independent studies on male and female Caucasian (n = 537) and Chinese students (n = 280). Autistic and empathic traits were measured in all subjects in the two independent groups usi...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - October 1, 2017 Category: Genetics & Stem Cells Authors: Christian Montag, Cornelia Sindermann, Martin Melchers, Sonja Jung, Ruixue Luo, Benjamin Becker, Jiang Xie, Wenming Xu, Adam J. Guastella, Keith M. Kendrick Tags: RESEARCH ARTICLE Source Type: research

Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability
In this study, exome sequencing was performed on 28 ID patients in 27 patient‐parent trios with the aim to identify de novo variants (DNVs) in known and novel ID associated genes. We report the identification of 25 DNVs out of which five were classified as pathogenic or likely pathogenic. Among these, a two base pair deletion was identified in the PUF60 gene, which is one of three genes in the critical region of the 8q24.3 microdeletion syndrome (Verheij syndrome). Our result adds to the growing evidence that PUF60 is responsible for the majority of the symptoms reported for carriers of a microdeletion across this region...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - October 1, 2017 Category: Genetics & Stem Cells Authors: Jin J. Zhao, Jonatan Halvardson, Cecilia S. Zander, Ammar Zaghlool, Patrik Georgii ‐Hemming, Else Månsson, Göran Brandberg, Helena E. Sävmarker, Carina Frykholm, Ekaterina Kuchinskaya, Ann‐Charlotte Thuresson, Lars Feuk Tags: RESEARCH ARTICLE Source Type: research

Nhe5 deficiency enhances learning and memory via upregulating Bdnf/TrkB signaling in mice
Nhe5, a Na+/H+ exchanger, is predominantly expressed in brain tissue and is proposed to act as a negative regulator of dendritic spine growth. Up to now, its physiological function in vivo remains unclear. Here we show that Nhe5‐deficient mice exhibit markedly enhanced learning and memory in Morris water maze, novel object recognition, and passive avoidance task. Meanwhile, the pre‐ and post‐synaptic components, synaptophysin (Syn) and post‐synaptic density 95 (PSD95) expression levels were found increased in hippocampal regions lacking of Nhe5, suggesting a possible alterations in neuronal synaptic structure and f...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - October 1, 2017 Category: Genetics & Stem Cells Authors: Xuejiao Chen, Xiyi Wang, Lingyun Tang, Jinjin Wang, Chunling Shen, Jianbing Liu, Shunyuan Lu, Hongxin Zhang, Ying Kuang, Jian Fei, Zhugang Wang Tags: RESEARCH ARTICLE Source Type: research

The role of cadherin genes in five major psychiatric disorders: A literature update
Converging evidence from candidate gene, genome‐wide linkage, and association studies support a role of cadherins in the pathophysiology of five major psychiatric disorders including attention deficit hyperactivity disorder, autism spectrum disorder (ASD), schizophrenia (SCZ), bipolar disorder (BD), and major depressive disorder (MDD). These molecules are transmembrane proteins which act as cell adhesives by forming adherens junctions (AJs) to bind cells within tissues. Members of the cadherin superfamily are also involved in biological processes such as signal transduction and plasticity that have been implicated in the...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - September 18, 2017 Category: Genetics & Stem Cells Authors: Ziarih Hawi, Janette Tong, Callum Dark, Hannah Yates, Beth Johnson, Mark A. Bellgrove Tags: REVIEW ARTICLE Source Type: research

Exome sequences of multiplex, multigenerational families reveal schizophrenia risk loci with potential implications for neurocognitive performance
In conclusion, these association results implicate AMACR and TMEM176A in schizophrenia risk, whose effects may be modulated by genes involved in synaptic plasticity and neurocognitive performance. (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - September 13, 2017 Category: Genetics & Stem Cells Authors: Mark Z. Kos, Melanie A. Carless, Juan Peralta, Joanne E. Curran, Ellen E. Quillen, Marcio Almeida, August Blackburn, Lucy Blondell, David R. Roalf, Michael F. Pogue ‐Geile, Ruben C. Gur, Harald H.H. Göring, Vishwajit L. Nimgaonkar, Raquel E. Gur, Laura 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 - September 13, 2017 Category: Genetics & Stem Cells Tags: Issue Information ‐ TOC Source Type: research

Cover Image, Volume 174B, Number 7, October 2017
  (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - September 13, 2017 Category: Genetics & Stem Cells Tags: Cover Image Source Type: research

Genomewide association studies of suicide attempts in US soldiers
Suicide is a global public health problem with particular resonance for the US military. Genetic risk factors for suicidality are of interest as indicators of susceptibility and potential targets for intervention. We utilized population‐based nonclinical cohorts of US military personnel (discovery: N = 473 cases and N = 9778 control subjects; replication: N = 135 cases and N = 6879 control subjects) and a clinical case‐control sample of recent suicide attempters (N = 51 cases and N = 112 control subjects) to conduct GWAS of suicide attempts (SA). Genomewide association was evaluated within each ...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - September 13, 2017 Category: Genetics & Stem Cells Authors: Murray B. Stein, Erin B. Ware, Colter Mitchell, Chia ‐Yen Chen, Susan Borja, Tianxi Cai, Catherine L. Dempsey, Carol S. Fullerton, Joel Gelernter, Steven G. Heeringa, Sonia Jain, Ronald C. Kessler, James A. Naifeh, Matthew K. Nock, Stephan Ripke, Xiaoyi Tags: RESEARCH ARTICLE Source Type: research

The role of CLOCK gene in psychiatric disorders: Evidence from human and animal research
The circadian clock system drives daily rhythms in physiology, metabolism, and behavior in mammals. Molecular mechanisms of this system consist of multiple clock genes, with Circadian Locomotor Output Cycles Kaput (CLOCK) as a core member that plays an important role in a wide range of behaviors. Alterations in the CLOCK gene are associated with common psychiatric disorders as well as with circadian disturbances comorbidities. This review addresses animal, molecular, and genetic studies evaluating the role of the CLOCK gene on many psychiatric conditions, namely autism spectrum disorder, schizophrenia, attention‐deficit/...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - September 13, 2017 Category: Genetics & Stem Cells Authors: Jaqueline B. Schuch, Julia P. Genro, Clarissa R. Bastos, Gabriele Ghisleni, Luciana Tovo ‐Rodrigues Tags: REVIEW ARTICLE Source Type: research

Phelan ‐McDermid syndrome data network: Integrating patient reported outcomes with clinical notes and curated genetic reports
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView. (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - September 1, 2017 Category: Genetics & Stem Cells Authors: 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 Source Type: research

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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Ahead of Print. (Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics)
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - September 1, 2017 Category: Genetics & Stem Cells Source Type: research