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https://www.readbyqxmd.com/read/28289594/a-9-year-old-girl-with-phelan-mcdermid-syndrome-who-had-been-diagnosed-with-an-autism-spectrum-disorder
#1
I Görker, H Gürkan, S Demir Ulusal, E Atlı, E Ikbal Atlı
Phelan McDermid Syndrome (PHMDS) (OMIM #606232), is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. The 22q13.3 deletions and mutations that lead to a loss of a functional copy of SHANK3 (OMIM *606230) cause the syndrome, characterized by moderate to profound intellectual disability, severely delayed or absent speech, hypotonia, and autism spectrum disorder (ASD) or ASD traits. In this study, we present the case of a 9-year-old girl who had earlier been diagnosed with an ASD...
December 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28281572/genome-wide-copy-number-variation-analysis-in-a-chinese-autism-spectrum-disorder-cohort
#2
Hui Guo, Yu Peng, Zhengmao Hu, Ying Li, Guanglei Xun, Jianjun Ou, Liangdan Sun, Zhimin Xiong, Yanling Liu, Tianyun Wang, Jingjing Chen, Lu Xia, Ting Bai, Yidong Shen, Qi Tian, Yiqiao Hu, Lu Shen, Rongjuan Zhao, Xuejun Zhang, Fengyu Zhang, Jingping Zhao, Xiaobing Zou, Kun Xia
Autism spectrum disorder (ASD) describes a group of neurodevelopmental disorders with high heritability, although the underlying genetic determinants of ASDs remain largely unknown. Large-scale whole-genome studies of copy number variation in Han Chinese samples are still lacking. We performed a genome-wide copy number variation analysis of 343 ASD trios, 203 patients with sporadic cases and 988 controls in a Chinese population using Illumina genotyping platforms to identify CNVs and related genes that may contribute to ASD risk...
March 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28263956/shank-proteins-limit-integrin-activation-by-directly-interacting-with-rap1-and%C3%A2-r-ras
#3
Johanna Lilja, Thomas Zacharchenko, Maria Georgiadou, Guillaume Jacquemet, Nicola De Franceschi, Emilia Peuhu, Hellyeh Hamidi, Jeroen Pouwels, Victoria Martens, Fatemeh Hassani Nia, Malte Beifuss, Tobias Boeckers, Hans-Juergen Kreienkamp, Igor L Barsukov, Johanna Ivaska
SHANK3, a synaptic scaffold protein and actin regulator, is widely expressed outside of the central nervous system with predominantly unknown function. Solving the structure of the SHANK3 N-terminal region revealed that the SPN domain is an unexpected Ras-association domain with high affinity for GTP-bound Ras and Rap G-proteins. The role of Rap1 in integrin activation is well established but the mechanisms to antagonize it remain largely unknown. Here, we show that SHANK1 and SHANK3 act as integrin activation inhibitors by sequestering active Rap1 and R-Ras via the SPN domain and thus limiting their bioavailability at the plasma membrane...
March 6, 2017: Nature Cell Biology
https://www.readbyqxmd.com/read/28261056/proteomic-analysis-of-post-synaptic-density-fractions-from-shank3-mutant-mice-reveals-brain-region-specific-changes-relevant-to-autism-spectrum-disorder
#4
Dominik Reim, Ute Distler, Sonja Halbedl, Chiara Verpelli, Carlo Sala, Juergen Bockmann, Stefan Tenzer, Tobias M Boeckers, Michael J Schmeisser
Disruption of the human SHANK3 gene can cause several neuropsychiatric disease entities including Phelan-McDermid syndrome, autism spectrum disorder (ASD), and intellectual disability. Although, a wide array of neurobiological studies strongly supports a major role for SHANK3 in organizing the post-synaptic protein scaffold, the molecular processes at synapses of individuals harboring SHANK3 mutations are still far from being understood. In this study, we biochemically isolated the post-synaptic density (PSD) fraction from striatum and hippocampus of adult Shank3Δ11(-/-) mutant mice and performed ion-mobility enhanced data-independent label-free LC-MS/MS to obtain the corresponding PSD proteomes (Data are available via ProteomeXchange with identifier PXD005192)...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28179641/shank-proteins-roles-at-the-synapse-and-in-autism-spectrum-disorder
#5
REVIEW
Patricia Monteiro, Guoping Feng
Several large-scale genomic studies have supported an association between cases of autism spectrum disorder and mutations in the genes SH3 and multiple ankyrin repeat domains protein 1 (SHANK1), SHANK2 and SHANK3, which encode a family of postsynaptic scaffolding proteins that are present at glutamatergic synapses in the CNS. An evaluation of human genetic data, as well as of in vitro and in vivo animal model data, may allow us to understand how disruption of SHANK scaffolding proteins affects the structure and function of neural circuits and alters behaviour...
March 2017: Nature Reviews. Neuroscience
https://www.readbyqxmd.com/read/28139198/oxytocin-improves-behavioral-and-electrophysiological-deficits-in-a-novel-shank3-deficient-rat
#6
Hala Harony-Nicolas, Maya Kay, Johann du Hoffmann, Matthew E Klein, Ozlem Bozdagi-Gunal, Mohammed Riad, Nikolaos P Daskalakis, Sankalp Sonar, Pablo E Castillo, Patrick R Hof, Matthew L Shapiro, Mark G Baxter, Shlomo Wagner, Joseph D Buxbaum
Mutations in the synaptic gene SHANK3 lead to a neurodevelopmental disorder known as Phelan-McDermid syndrome (PMS). PMS is a relatively common monogenic and highly penetrant cause of autism spectrum disorder (ASD) and intellectual disability (ID), and frequently presents with attention deficits. The underlying neurobiology of PMS is not fully known and pharmacological treatments for core symptoms do not exist. Here, we report the production and characterization of a Shank3-deficient rat model of PMS, with a genetic alteration similar to a human SHANK3 mutation...
January 31, 2017: ELife
https://www.readbyqxmd.com/read/28130356/a-novel-human-camk2a-mutation-disrupts-dendritic-morphology-and-synaptic-transmission-and-causes-asd-related-behaviors
#7
Jason R Stephenson, Xiaohan Wang, Tyler L Perfitt, Walker P Parrish, Brian C Shonesy, Christian R Marks, Douglas P Mortlock, Terunaga Nakagawa, James S Sutcliffe, Roger J Colbran
Characterizing the functional impact of novel mutations linked to autism spectrum disorder (ASD) provides a deeper mechanistic understanding of the underlying pathophysiological mechanisms. Here we show that a de novo Glu183 to Val (E183V) mutation in the CaMKIIα catalytic domain, identified in a proband diagnosed with ASD, decreases both CaMKIIα substrate phosphorylation and regulatory autophosphorylation, and that the mutated kinase acts in a dominant-negative manner to reduce CaMKIIα-WT autophosphorylation...
February 22, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28018439/phelan-mcdermid-syndrome-presenting-with-developmental-delays-and-facial-dysmorphisms
#8
Yoon-Myung Kim, In-Hee Choi, Jun Suk Kim, Ja Hye Kim, Ja Hyang Cho, Beom Hee Lee, Gu-Hwan Kim, Jin-Ho Choi, Eul-Ju Seo, Han-Wook Yoo
Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3, RAB, RABL2B, and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of Korean patients with Phelan-McDermid syndrome. Two patients showing global developmental delay, hypotonia, and speech delay were diagnosed with Phelan-McDermid syndrome via chromosome analysis, fluorescent in situ hybridization, and multiplex ligation-dependent probe amplification analysis...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28003654/neurodevelopmental-disorders-a-painful-role-for-shank3
#9
Katherine Whalley
No abstract text is available yet for this article.
February 2017: Nature Reviews. Neuroscience
https://www.readbyqxmd.com/read/28002633/vta-da-neuron-excitatory-synapses-in-shank3-%C3%AE-ex-4-9-mouse-line
#10
Bariselli Sebastiano, Bellone Camilla
SHANK3 proteins belong to the Shank/ProSAP family, which contain five-conserved domains - the ankyrin (ANK) repeated, the Src homology 3 (SH3), the PSD-95/Discs large/ZO-1 (PDZ), the proline-rich and the sterile alpha motif (SAM; Sheng and Kim, 2000). SHANK proteins are located at the postsynaptic density of excitatory synapses and indirectly link the metabotropic (mGluRs) and the ionotropic glutamate receptor (iGluRs: AMPARs, α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptors, and NMDARs, N-methyl-D-aspartate receptors) via different domains (Naisbitt et al...
December 21, 2016: Synapse
https://www.readbyqxmd.com/read/27916453/shank3-deficiency-impairs-heat-hyperalgesia-and-trpv1-signaling-in-primary-sensory-neurons
#11
Qingjian Han, Yong Ho Kim, Xiaoming Wang, Di Liu, Zhi-Jun Zhang, Alexandra L Bey, Mark Lay, Wonseok Chang, Temugin Berta, Yan Zhang, Yong-Hui Jiang, Ru-Rong Ji
Abnormal pain sensitivity is commonly associated with autism spectrum disorders (ASDs) and affects the life quality of ASD individuals. SHANK3 deficiency was implicated in ASD and pain dysregulation. Here, we report functional expression of SHANK3 in mouse dorsal root ganglion (DRG) sensory neurons and spinal cord presynaptic terminals. Homozygous and heterozygous Shank3 complete knockout (Δe4-22) results in impaired heat hyperalgesia in inflammatory and neuropathic pain. Specific deletion of Shank3 in Nav1...
December 21, 2016: Neuron
https://www.readbyqxmd.com/read/27891178/enrichment-of-small-pathogenic-deletions-at-chromosome-9p24-3-and-9q34-3-involving-dock8-kank1-ehmt1-genes-identified-by-using-high-resolution-oligonucleotide-single-nucleotide-polymorphism-array-analysis
#12
Jia-Chi Wang, Loretta W Mahon, Leslie P Ross, Arturo Anguiano, Renius Owen, Fatih Z Boyar
BACKGROUND: High-resolution oligo-SNP array allowed the identification of extremely small pathogenic deletions at numerous clinically relevant regions. In our clinical practice, we found that small pathogenic deletions were frequently encountered at chromosome 9p and 9q terminal regions. RESULTS: A review of 531 cases with reportable copy number changes on chromosome 9 revealed142 pathogenic copy number variants (CNVs): 104 losses, 31 gains, 7 complex chromosomal rearrangements...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27876814/a-genome-wide-investigation-into-parent-of-origin-effects-in-autism-spectrum-disorder-identifies-previously-associated-genes-including-shank3
#13
Siobhan Connolly, Richard Anney, Louise Gallagher, Elizabeth A Heron
Autism spectrum disorder (ASD) is known to be a heritable neurodevelopmental disorder affecting more than 1% of the population but in the majority of ASD cases, the genetic cause has not been identified. Parent-of-origin effects have been highlighted as an important mechanism in the pathology of neurodevelopmental disorders such as Prader-Willi and Angelman syndrome, with individuals with these syndromes often exhibiting ASD symptoms. Consequently, systematic investigation of these effects in ASD is clearly an important line of investigation in elucidating the underlying genetic mechanisms...
February 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27856360/sensitivity-to-isoflurane-anesthesia-increases-in-autism-spectrum-disorder-shank3-%C3%A2-c-mutant-mouse-model
#14
Changsheng Li, Michele Schaefer, Christy Gray, Ya Yang, Orion Furmanski, Sufang Liu, Paul Worley, C David Mintz, Feng Tao, Roger A Johns
Autism is a heterogeneous developmental disorder characterized by impaired social interaction, impaired communication skills, and restricted and repetitive behavior. The abnormal behaviors of these patients can make their anesthetic and perioperative management difficult. Evidence in the literature suggests that some patients with autism or specific autism spectrum disorders (ASD) exhibit altered responses to pain and to anesthesia or sedation. A genetic mouse model of one particular ASD, Phelan McDermid Syndrome, has been developed that has a Shank3 haplotype truncation (Shank3(+/Δc))...
November 14, 2016: Neurotoxicology and Teratology
https://www.readbyqxmd.com/read/27846046/clinical-and-molecular-characterization-of-three-genomic-rearrangements-at-chromosome-22q13-3-associated-with-autism-spectrum-disorder
#15
Chia-Hsiang Chen, Hsin-I Chen, Hsiao-Mei Liao, Yann-Jang Chen, Jye-Siung Fang, Kuei-Fang Lee, Susan Shur-Fen Gau
OBJECTIVES: Chromosome 22q13 is a hot region of genomic rearrangements that may result in deletion, duplication, and translocation, and that may lead to neurodevelopmental disorders in affected patients. MATERIALS AND METHODS: We carried out an array-based comparative genomic hybridization analysis to detect copy number variations (CNVs) of genomic DNA in patients with autism spectrum disorders (ASD) who were consecutively recruited into our molecular genetic study of ASD...
November 11, 2016: Psychiatric Genetics
https://www.readbyqxmd.com/read/27795858/actin-dependent-alterations-of-dendritic-spine-morphology-in-shankopathies
#16
REVIEW
Tasnuva Sarowar, Andreas M Grabrucker
Shank proteins (Shank1, Shank2, and Shank3) act as scaffolding molecules in the postsynaptic density of many excitatory neurons. Mutations in SHANK genes, in particular SHANK2 and SHANK3, lead to autism spectrum disorders (ASD) in both human and mouse models. Shank3 proteins are made of several domains-the Shank/ProSAP N-terminal (SPN) domain, ankyrin repeats, SH3 domain, PDZ domain, a proline-rich region, and the sterile alpha motif (SAM) domain. Via various binding partners of these domains, Shank3 is able to bind and interact with a wide range of proteins including modulators of small GTPases such as RICH2, a RhoGAP protein, and βPIX, a RhoGEF protein for Rac1 and Cdc42, actin binding proteins and actin modulators...
2016: Neural Plasticity
https://www.readbyqxmd.com/read/27790361/a-systematic-variant-annotation-approach-for-ranking-genes-associated-with-autism-spectrum-disorders
#17
Eric Larsen, Idan Menashe, Mark N Ziats, Wayne Pereanu, Alan Packer, Sharmila Banerjee-Basu
BACKGROUND: The search for genetic factors underlying autism spectrum disorders (ASD) has led to the identification of hundreds of genes containing thousands of variants that differ in mode of inheritance, effect size, frequency, and function. A major challenge involves assessing the collective evidence in an unbiased, systematic manner for their functional relevance. METHODS: Here, we describe a scoring algorithm for prioritization of candidate genes based on the cumulative strength of evidence for each ASD-associated variant cataloged in AutDB (also known as SFARI Gene)...
2016: Molecular Autism
https://www.readbyqxmd.com/read/27785461/immature-neurons-and-radial-glia-but-not-astrocytes-or-microglia-are-altered-in-adult-cntnap2-and-shank3-mice-models-of-autism
#18
Elise C Cope, Brandy A Briones, Adam T Brockett, Susana Martinez, Pierre-Antoine Vigneron, Maya Opendak, Samuel S-H Wang, Elizabeth Gould
Autism spectrum disorder (ASD) is often associated with cognitive deficits and excessive anxiety. Neuroimaging studies have shown atypical structure and neural connectivity in the hippocampus, medial prefrontal cortex (mPFC), and striatum, regions associated with cognitive function and anxiety regulation. Adult hippocampal neurogenesis is involved in many behaviors that are disrupted in ASD, including cognition, anxiety, and social behaviors. Additionally, glial cells, such as astrocytes and microglia, are important for modulating neural connectivity during development, and glial dysfunction has been hypothesized to be a key contributor to the development of ASD...
September 2016: ENeuro
https://www.readbyqxmd.com/read/27741506/clinical-and-genomic-evaluation-of-a-chinese-patient-with-a-novel-deletion-associated-with-phelan-mcdermid-syndrome
#19
Dongzhu Lei, Shaoyuan Li, Santasree Banerjee, Haoqing Zhang, Caiyun Li, Shuai Hou, Danjing Chen, Haiying Yan, Hanmei Li, Huan Huan Peng, Saijun Liu, Xinxin Zhang, Zhiyu Peng, Jian Wang, Huanming Yang, Hui Huang, Jing Wu
Phelan-McDermid syndrome is a neurodevelopmental disorder caused by the terminal deletion of chromosome 22 (22q13) followed by the loss of function of the SHANK3 gene. Various terminal deletions of chromosome 22q13 are associated with Phelan-McDermid with a spectrum of phenotypic severity. Here, we have done a clinical molecular study of a Chinese proband with Phelan-McDermid syndrome. Both the proband and her younger brother are associated with this syndrome while their parents are phenotypically normal. We used a karyotype in order to detect the genotype of the proband and her younger brother...
October 10, 2016: Oncotarget
https://www.readbyqxmd.com/read/27692350/-epigenetics-implication-in-autism-spectrum-disorders-a-review
#20
M Hamza, S Halayem, R Mrad, S Bourgou, F Charfi, A Belhadj
BACKGROUND: The etiology of autism spectrum disorders (ASD) is complex and multifactorial, and the roles of genetic and environmental factors in its emergence have been well documented. Current research tends to indicate that these two factors act in a synergistic manner. The processes underlying this interaction are still poorly known, but epigenetic modifications could be the mediator in the gene/environment interface. The epigenetic mechanisms have been implicated in susceptibility to stress and also in the pathogenesis of psychiatric disorders including depression and schizophrenia...
September 27, 2016: L'Encéphale
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