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https://www.readbyqxmd.com/read/28527575/coup-tf-genes-human-diseases-and-the-development-of-the-central-nervous-system-in-murine-models
#1
Xiong Yang, Su Feng, Ke Tang
COUP-TFI and -TFII are members of the steroid/thyroid nuclear receptor superfamily. Recent clinical studies reveal that COUP-TFI gene mutations are associated with Bosch-Boonstra-Schaaf optic atrophy syndrome displaying symptoms of optic atrophy, intellectual disability, hypotonia, seizure, autism spectrum disorders, oromotor dysfunction, thin corpus callosum, or hearing defects, and COUP-TFII gene mutations lead to congenital heart defects and/or congenital diaphragmatic hernia with developmental delay and mental defects...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28526761/a-retrospective-chart-review-of-the-features-of-pten-hamartoma-tumour-syndrome-in-children
#2
Emily Hansen-Kiss, Sarah Beinkampen, Brent Adler, Thomas Frazier, Thomas Prior, Steven Erdman, Charis Eng, Gail Herman
OBJECTIVE: It is recognised that 5% - 10 % of children with macrocephaly and autism spectrum disorder (ASD) and/or intellectual disability (ID) have a heterozygous pathogenic mutation in the PTEN tumour suppressor gene that is associated with PTEN hamartoma tumour syndrome. However, the clinical features and course in children with a pathogenic PTEN mutation are unclear and have not been well documented. STUDY OBJECTIVES: We undertook a retrospective chart review of children (< 18  years) with pathogenic PTEN mutations to ascertain clinical findings, clinical course and possible outcomes...
May 19, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28524815/anchoring-high-concentrations-of-syngap-at-postsynaptic-densities-via-liquid-liquid-phase-separation
#3
Menglong Zeng, Guanhua Bai, Mingjie Zhang
SynGAP, encoded by SYNGAP1, is a Ras/Rap GTPase activator specifically expressed in the nervous systems. SynGAP is one of the most abundant proteins in the postsynaptic densities (PSDs) of excitatory synapses and acts as a critical synaptic activity brake by tuning down synaptic GTPase activities. Mutations of SYNGAP1 have been frequently linked to brain disorders including intellectual disability, autisms, and seizure. SynGAP has been shown to undergo fast dispersions from synapses in response to stimulations, a strategy that neurons use to control the specific activities of the enzyme within the tiny, semi-open compartments in dendritic spines...
May 19, 2017: Small GTPases
https://www.readbyqxmd.com/read/28508319/trpc-channels-and-mental-disorders
#4
Karina Griesi-Oliveira, Angela May Suzuki, Alysson Renato Muotri
Transient receptor potential canonical (TRPC) channels mediate the influx of different types of cations through the cell membrane and are involved in many functions of the organism. Evidences of involvement of TRPC channels in neuronal development suggest that this family of proteins might play a role in certain neurological disorders. As reported, knockout mice for different TRPC channels show alterations in neuronal morphological and functional parameters, with behavioral abnormalities, such as in exploratory and social behaviors...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28503910/post-zygotic-single-nucleotide-mosaicisms-contribute-to-the-etiology-of-autism-spectrum-disorder-and-autistic-traits-and-the-origin-of-mutations
#5
Yanmei Dou, Xiaoxu Yang, Ziyi Li, Sheng Wang, Zheng Zhang, Adam Yongxin Ye, Linlin Yan, Changhong Yang, Qixi Wu, Jiarui Li, Boxun Zhao, August Yue Huang, Liping Wei
The roles and characteristics of post-zygotic single-nucleotide mosaicisms (pSNMs) in autism spectrum disorders (ASD) remain unclear. In this study of the whole-exomes of 2,321 families in the Simons Simplex Collection (SSC), we identified 1,248 putative pSNMs in children and 285 de novo SNPs in children with detectable parental mosaicism. Ultra-deep amplicon resequencing suggested a validation rate of 51%. Analyses of validated pSNMs revealed that missense/loss-of-function (LoF) pSNMs with a high mutant allele fraction (MAF> = 0...
May 14, 2017: Human Mutation
https://www.readbyqxmd.com/read/28498949/proteolytic-cleavage-is-required-for-functional-neuroligin-2-maturation-and-trafficking-in-drosophila
#6
Renjun Tu, Jinjun Qian, Menglong Rui, Nana Tao, Mingkuan Sun, Yan Zhuang, Huihui Lv, Junhai Han, Moyi Li, Wei Xie
Neuroligins are transmembrane cell adhesion molecules playing essential roles in synapse development and function. Genetic mutations in neuroligin genes have been linked with some neurodevelopmental disorders such as autism. These mutated Neuroligins are mostly retained in the endoplasmic reticulum (ER). However, the mechanisms underlying normal Neuroligin maturation and trafficking have remained largely unknown. Here, we found that Drosophila Neuroligin 2 (DNlg2) undergoes proteolytic cleavage in the ER in a variety of Drosophila tissues throughout developmental stages...
May 11, 2017: Journal of Molecular Cell Biology
https://www.readbyqxmd.com/read/28496999/the-clinical-manifestations-and-genetic-implications-of-baraitser-winter-syndrome-type-2
#7
Tanya C Allawh, Barry Scott Brown
An 18-year-old Caucasian male was born by cesarean section weighing 2.6 kg (5 lb 14 oz) at birth after an uncomplicated pregnancy with no perinatal complications. Around 4 to 5 months of age, the patient's mother initially became concerned as he was experiencing signs of developmental delay and a mild floppy tone, in addition to facial features that resembled some form of mental retardation. The patient's older brother also experienced similar developmental symptoms and facial features that presented around the same age period as our patient...
June 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28489313/in-utero-seizures-revealing-dentato-olivary-dysplasia-caused-by-scn2a-mutation
#8
Fanny Sauvestre, Sébastien Moutton, Catherine Badens, Bernard Broussin, Dominique Carles, Nada Houcinat, Caroline Lacoste, Florent Marguet, Christophe Pecheux, Laurent Villard, Fanny Pelluard, Annie Laquerrière, Gwenaëlle André
Most early-onset epileptic encephalopathies (EOEE) are caused by genetic defects. In the past, mutations, especially in genes encoding sodium channels, have been identified using linkage studies, array-CGH and more recently next-generation sequencing (NGS) [1]. Mutations in SCN2A gene have been identified in a wide variety of early-onset epileptic syndromes including benign familial neonatal infantile seizures (BFNIS) [2] and more severe forms leading to encephalopathy such as Ohtahara or West syndromes [3], epilepsy of infancy with migrating focal seizures (EIMFS) [4] and autism spectrum disorders [5]...
May 10, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28480548/expanding-the-phenotypic-spectrum-of-truncating-pogz-mutations-association-with-cns-malformations-skeletal-abnormalities-and-distinctive-facial-dysmorphism
#9
Maria Lisa Dentici, Marcello Niceta, Francesca Pantaleoni, Sabina Barresi, Paola Bencivenga, Bruno Dallapiccola, Maria Cristina Digilio, Marco Tartaglia
Exome sequencing has led to the comprehension of the molecular bases of several forms of neurodevelopmental disorders, a clinically heterogeneous group of diseases characterized by intellectual disability (ID) and autism spectrum disorder (ASD). De novo mutations in POGZ has been causally linked to isolated ASD and syndromic ID, only recently. Here we report on a 15 year-old girl in whom exome sequencing allowed to identify a de novo POGZ truncating mutation as the molecular cause underlying a complex phenotype apparently not fitting any recognized syndrome...
May 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28477407/shank-is-a-dose-dependent-regulator-of-cav1-calcium-current-and-creb-target-expression
#10
Edward Pym, Nikhil Sasidharan, Katherine L Thompson-Peer, David J Simon, Anthony Anselmo, Ruslan Sadreyev, Qi Hall, Stephen Nurrish, Joshua M Kaplan
Shank is a post-synaptic scaffolding protein that has many binding partners. Shank mutations and copy number variations (CNVs) are linked to several psychiatric disorders, and to synaptic and behavioral defects in mice. It is not known which Shank binding partners are responsible for these defects. Here we show that the C. elegans SHN-1/Shank binds L-type calcium channels and that increased and decreased shn-1 gene dosage alter L-channel current and activity-induced expression of a CRH-1/CREB transcriptional target (gem-4 Copine), which parallels the effects of human Shank copy number variations (CNVs) on Autism spectrum disorders and schizophrenia...
May 6, 2017: ELife
https://www.readbyqxmd.com/read/28472621/the-valproic-acid-induced-rodent-model-of-autism
#11
REVIEW
Chiara Nicolini, Margaret Fahnestock
Autism is a lifelong neurodevelopmental disorder characterized by impairments in social communication and interaction and by repetitive patterns of behavior, interests and activities. While autism has a strong genetic component, environmental factors including toxins, pesticides, infection and drugs are known to confer autism susceptibility, likely by inducing epigenetic changes. In particular, exposure to valproic acid (VPA) during pregnancy has been demonstrated to increase the risk of autism in children...
May 2, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28472301/new-gain-of-function-mutation-shows-cacna1d-as-recurrently-mutated-gene-in-autism-spectrum-disorders-and-epilepsy
#12
Alexandra Pinggera, Luisa Mackenroth, Andreas Rump, Jens Schallner, Filippo Beleggia, Bernd Wollnik, Jörg Striessnig
CACNA1D encodes the pore-forming α1-subunit of Cav1.3, an L-type voltage-gated Ca2+-channel. Despite the recent discovery of two de novo missense gain-of-function mutations in Cav1.3 in two individuals with autism spectrum disorder (ASD) and intellectual disability CACNA1D has not been considered a prominent ASD-risk gene in large scale genetic analyses, since such studies primarly focus on likely-disruptive genetic variants. Here we report the discovery and characterization of a third de novo missense mutation in CACNA1D (V401L) in a patient with ASD and epilepsy...
May 4, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28469556/integrative-analysis-of-brain-region-specific-shank3-interactomes-for-understanding-the-heterogeneity-of-neuronal-pathophysiology-related-to-shank3-mutations
#13
Yeunkum Lee, Hyojin Kang, Bokyoung Lee, Yinhua Zhang, Yoonhee Kim, Shinhyun Kim, Won-Ki Kim, Kihoon Han
Recent molecular genetic studies have identified 100s of risk genes for various neurodevelopmental and neuropsychiatric disorders. As the number of risk genes increases, it is becoming clear that different mutations of a single gene could cause different types of disorders. One of the best examples of such a gene is SHANK3, which encodes a core scaffold protein of the neuronal excitatory post-synapse. Deletions, duplications, and point mutations of SHANK3 are associated with autism spectrum disorders, intellectual disability, schizophrenia, bipolar disorder, and attention deficit hyperactivity disorder...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28465421/hyperactive-locomotion-in-a-drosophila-model-is-a-functional-readout-for-the-synaptic-abnormalities-underlying-fragile-x-syndrome
#14
Risa Kashima, Patrick L Redmond, Prajakta Ghatpande, Sougata Roy, Thomas B Kornberg, Thomas Hanke, Stefan Knapp, Giorgio Lagna, Akiko Hata
Fragile X syndrome (FXS) is the most common cause of heritable intellectual disability and autism and affects ~1 in 4000 males and 1 in 8000 females. The discovery of effective treatments for FXS has been hampered by the lack of effective animal models and phenotypic readouts for drug screening. FXS ensues from the epigenetic silencing or loss-of-function mutation of the fragile X mental retardation 1 (FMR1) gene, which encodes an RNA binding protein that associates with and represses the translation of target mRNAs...
May 2, 2017: Science Signaling
https://www.readbyqxmd.com/read/28463240/incorrect-dosage-of-iqsec2-a-known-intellectual-disability-and-epilepsy-gene-disrupts-dendritic-spine-morphogenesis
#15
S J Hinze, M R Jackson, S Lie, L Jolly, M Field, S C Barry, R J Harvey, C Shoubridge
There is considerable genetic and phenotypic heterogeneity associated with intellectual disability (ID), specific learning disabilities, attention-deficit hyperactivity disorder, autism and epilepsy. The intelligence quotient (IQ) motif and SEC7 domain containing protein 2 gene (IQSEC2) is located on the X-chromosome and harbors mutations that contribute to non-syndromic ID with and without early-onset seizure phenotypes in both sexes. Although IQ and Sec7 domain mutations lead to partial loss of IQSEC2 enzymatic activity, the in vivo pathogenesis resulting from these mutations is not known...
May 2, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28455770/autism-epilepsy-and-synaptopathies-a-not-rare-association
#16
REVIEW
Roberto Keller, Roberta Basta, Luana Salerno, Maurizio Elia
Autism spectrum disorders (ASD) are neurodevelopmental disorders typically diagnosed in childhood, characterized by core social dysfunction, rigid and repetitive behaviors, restricted interests, and abnormal sensorial sensitivity. ASD belong to multifactorial diseases: both genetic and environmental factors have been considered as potential risk factors for their onset. ASD are often associated with neurological conditions: the co-occurrence of epilepsy is well documented and there is also evidence of a higher prevalence of EEG abnormalities with 4-86% of individuals with ASD presenting epileptiform or not epileptiform EEG abnormalities...
April 28, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28452083/neurobiological-bases-of-autism-epilepsy-comorbidity-a-focus-on-excitation-inhibition-imbalance
#17
Yuri Bozzi, Giovanni Provenzano, Simona Casarosa
Autism spectrum disorders (ASD) and epilepsy are common neurological diseases of childhood, with an estimated incidence of approximately 0.5 - 1% of the worldwide population. Several genetic, neuroimaging and neuropathological studies clearly showed that both ASD and epilepsy have developmental origins and a substantial degree of heritability. Most importantly, ASD and epilepsy frequently coexist in the same individual, suggesting a common neurodevelopmental basis for these disorders. Genome-wide association studies recently allowed for the identification of a substantial number of genes involved in ASD and epilepsy, some of which are mutated in syndromes presenting both ASD and epilepsy clinical features...
April 27, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/28451631/gaba-b-agonist-baclofen-normalizes-auditory-evoked-neural-oscillations-and-behavioral-deficits-in-the-fmr1-knockout-mouse-model-of-fragile-x-syndrome
#18
D Sinclair, R Featherstone, M Naschek, J Nam, A Du, S Wright, K Pance, O Melnychenko, R Weger, S Akuzawa, M Matsumoto, S J Siegel
Fragile X syndrome is a genetic condition resulting from FMR1 gene mutation that leads to intellectual disability, autism-like symptoms, and sensory hypersensitivity. Arbaclofen, a GABA-B agonist, has shown efficacy in some individuals with FXS but has become unavailable after unsuccessful clinical trials, prompting interest in publicly available, racemic baclofen. The present study investigated whether racemic baclofen can remediate abnormalities of neural circuit function, sensory processing, and behavior in Fmr1 knockout mice, a rodent model of fragile X syndrome...
January 2017: ENeuro
https://www.readbyqxmd.com/read/28448442/rai1-haploinsufficiency-is-associated-with-social-abnormalities-in-mice
#19
Nalini R Rao, Clemer Abad, Irene C Perez, Anand K Srivastava, Juan I Young, Katherina Walz
Background: Autism is characterized by difficulties in social interaction, communication, and repetitive behaviors; with different degrees of severity in each of the core areas. Haploinsufficiency and point mutations of RAI1 are associated with Smith-Magenis syndrome (SMS), a genetic condition that scores within the autism spectrum range for social responsiveness and communication, and is characterized by neurobehavioral abnormalities, intellectual disability, developmental delay, sleep disturbance, and self-injurious behaviors...
April 27, 2017: Biology
https://www.readbyqxmd.com/read/28439102/mecp2-regulated-mirnas-control-early-human-neurogenesis-through-differential-effects-on-erk-and-akt-signaling
#20
N Mellios, D A Feldman, S D Sheridan, J P K Ip, S Kwok, S K Amoah, B Rosen, B A Rodriguez, B Crawford, R Swaminathan, S Chou, Y Li, M Ziats, C Ernst, R Jaenisch, S J Haggarty, M Sur
Rett syndrome (RTT) is an X-linked, neurodevelopmental disorder caused primarily by mutations in the methyl-CpG-binding protein 2 (MECP2) gene, which encodes a multifunctional epigenetic regulator with known links to a wide spectrum of neuropsychiatric disorders. Although postnatal functions of MeCP2 have been thoroughly investigated, its role in prenatal brain development remains poorly understood. Given the well-established importance of microRNAs (miRNAs) in neurogenesis, we employed isogenic human RTT patient-derived induced pluripotent stem cell (iPSC) and MeCP2 short hairpin RNA knockdown approaches to identify novel MeCP2-regulated miRNAs enriched during early human neuronal development...
April 25, 2017: Molecular Psychiatry
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