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https://www.readbyqxmd.com/read/29773754/a-critical-neurodevelopmental-role-for-l-type-voltage-gated-calcium-channels-in-neurite-extension-and-radial-migration
#1
Satoshi Kamijo, Yuichiro Ishii, Shin-Ichiro Horigane, Kanzo Suzuki, Masamichi Ohkura, Junichi Nakai, Hajime Fujii, Sayaka Takemoto-Kimura, Haruhiko Bito
In spite of many association studies linking gene polymorphisms and mutations of L-type Voltage-Gated Ca2+ Channels (VGCC) in neurodevelopmental disorders, such as autism and schizophrenia, specific L-type VGCC roles during brain development remain unclear. Yet, calcium signaling has been shown to be essential for neurodevelopmental processes such as sculpting of neurites, functional wiring and fine tuning of growing networks. To bridge this gap, we performed submembraneous calcium imaging using a membrane-tethered genetically-encoded calcium indicator (GECI) Lck-G-CaMP7...
May 17, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29768199/the-autism-related-protein-chd8-cooperates-with-c-ebp%C3%AE-to-regulate-adipogenesis
#2
Yasuyuki Kita, Yuta Katayama, Taichi Shiraishi, Takeru Oka, Tetsuya Sato, Mikita Suyama, Yasuyuki Ohkawa, Keishi Miyata, Yuichi Oike, Michiko Shirane, Masaaki Nishiyama, Keiichi I Nakayama
The gene encoding the chromatin remodeler CHD8 is the most frequently mutated gene in individuals with autism spectrum disorder (ASD). Heterozygous mutations in CHD8 give rise to ASD that is often accompanied by macrocephaly, gastrointestinal complaints, and slender habitus. Whereas most phenotypes of CHD8 haploinsufficiency likely result from delayed neurodevelopment, the mechanism underlying slender habitus has remained unknown. Here, we show that CHD8 interacts with CCAAT/enhancer-binding protein β (C/EBPβ) and promotes its transactivation activity during adipocyte differentiation...
May 15, 2018: Cell Reports
https://www.readbyqxmd.com/read/29758565/clinical-and-genetic-analysis-of-a-rare-syndrome-associated-with-neoteny
#3
Richard F Walker, Serban Ciotlos, Qing Mao, Robert Chin, Snezana Drmanac, Nina Barua, Misha R Agarwal, Rebecca Yu Zhang, Zhenyu Li, Michelle Ka Yan Wu, Kevin Sun, Katharine Lee, Staci Nguyen, Jia Sophie Liu, Paolo Carnevali, Radoje Drmanac, Brock A Peters
PurposeWe describe a novel syndrome in seven female patients with extreme developmental delay and neoteny.MethodsAll patients in this study were female, aged 4 to 23 years, were well below the fifth percentile in height and weight, had failed to develop sexually, and lacked the use of language. Karyotype and array chromosome genomic hybridization analysis failed to identify large-scale structural variations. To further understand the underlying cause of disease in these patients, whole-genome sequencing was performed...
April 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29756080/-de-novo-mutations-and-rare-variants-occurring-in-nmda-receptors
#4
Wenshu XiangWei, Yuwu Jiang, Hongjie Yuan
A significant number of variants/mutations in the N -methyl-D -aspartate glutamatergic receptor (NMDAR) gene family ( GRIN ) have been identified along with stunning advances in the technologies of next generation of whole-exome sequencing. Mutations in human GRIN genes are distributed throughout the entire gene, from amino terminal domain to C-terminal domain, in patients with various neuropsychiatric disorders, including autism spectrum disorders, epilepsy, intellectual disability, attention deficit hyperactivity disorder, and schizophrenia...
April 2018: Current Opinion in Physiology
https://www.readbyqxmd.com/read/29754769/a-statistical-framework-for-mapping-risk-genes-from-de-novo-mutations-in-whole-genome-sequencing-studies
#5
Yuwen Liu, Yanyu Liang, A Ercument Cicek, Zhongshan Li, Jinchen Li, Rebecca A Muhle, Martina Krenzer, Yue Mei, Yan Wang, Nicholas Knoblauch, Jean Morrison, Siming Zhao, Yi Jiang, Evan Geller, Iuliana Ionita-Laza, Jinyu Wu, Kun Xia, James P Noonan, Zhong Sheng Sun, Xin He
Analysis of de novo mutations (DNMs) from sequencing data of nuclear families has identified risk genes for many complex diseases, including multiple neurodevelopmental and psychiatric disorders. Most of these efforts have focused on mutations in protein-coding sequences. Evidence from genome-wide association studies (GWASs) strongly suggests that variants important to human diseases often lie in non-coding regions. Extending DNM-based approaches to non-coding sequences is challenging, however, because the functional significance of non-coding mutations is difficult to predict...
April 30, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29752066/the-microglial-innate-immune-receptor-trem2-is-required-for-synapse-elimination-and-normal-brain-connectivity
#6
Fabia Filipello, Raffaella Morini, Irene Corradini, Valerio Zerbi, Alice Canzi, Bernadeta Michalski, Marco Erreni, Marija Markicevic, Chiara Starvaggi-Cucuzza, Karel Otero, Laura Piccio, Francesca Cignarella, Fabio Perrucci, Matteo Tamborini, Marco Genua, Lawrence Rajendran, Elisabetta Menna, Stefania Vetrano, Margaret Fahnestock, Rosa Chiara Paolicelli, Michela Matteoli
The triggering receptor expressed on myeloid cells 2 (TREM2) is a microglial innate immune receptor associated with a lethal form of early, progressive dementia, Nasu-Hakola disease, and with an increased risk of Alzheimer's disease. Microglial defects in phagocytosis of toxic aggregates or apoptotic membranes were proposed to be at the origin of the pathological processes in the presence of Trem2 inactivating mutations. Here, we show that TREM2 is essential for microglia-mediated synaptic refinement during the early stages of brain development...
May 3, 2018: Immunity
https://www.readbyqxmd.com/read/29751511/the-relationship-between-sleep-problems-neurobiological-alterations-core-symptoms-of-autism-spectrum-disorder-and-psychiatric-comorbidities
#7
REVIEW
Luigi Mazzone, Valentina Postorino, Martina Siracusano, Assia Riccioni, Paolo Curatolo
Children with Autism Spectrum Disorder (ASD) are at an increased risk for sleep disturbances, and studies indicate that between 50 and 80% of children with ASD experience sleep problems. These problems increase parental stress and adversely affect family quality of life. Studies have also suggested that sleep disturbances may increase behavioral problems in this clinical population. Although understanding the causes of sleep disorders in ASD is a clinical priority, the causal relationship between these two conditions remains unclear...
May 3, 2018: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/29740699/de-novo-mutations-in-med13-a-component-of-the-mediator-complex-are-associated-with-a-novel-neurodevelopmental-disorder
#8
Lot Snijders Blok, Susan M Hiatt, Kevin M Bowling, Jeremy W Prokop, Krysta L Engel, J Nicholas Cochran, E Martina Bebin, Emilia K Bijlsma, Claudia A L Ruivenkamp, Paulien Terhal, Marleen E H Simon, Rosemarie Smith, Jane A Hurst, Heather McLaughlin, Richard Person, Amy Crunk, Michael F Wangler, Haley Streff, Joseph D Symonds, Sameer M Zuberi, Katherine S Elliott, Victoria R Sanders, Abigail Masunga, Robert J Hopkin, Holly A Dubbs, Xilma R Ortiz-Gonzalez, Rolph Pfundt, Han G Brunner, Simon E Fisher, Tjitske Kleefstra, Gregory M Cooper
Many genetic causes of developmental delay and/or intellectual disability (DD/ID) are extremely rare, and robust discovery of these requires both large-scale DNA sequencing and data sharing. Here we describe a GeneMatcher collaboration which led to a cohort of 13 affected individuals harboring protein-altering variants, 11 of which are de novo, in MED13; the only inherited variant was transmitted to an affected child from an affected mother. All patients had intellectual disability and/or developmental delays, including speech delays or disorders...
May 8, 2018: Human Genetics
https://www.readbyqxmd.com/read/29735556/usp8-deubiquitinates-shank3-to-control-synapse-density-and-shank3-activity-dependent-protein-levels
#9
Meghan Kerrisk Campbell, Morgan Sheng
Mutations or altered protein levels of SHANK3 are implicated in neurodevelopmental disorders such as Phelan-McDermid syndrome, autism spectrum disorders, and schizophrenia (Guilmatre et al., 2014). Loss of SHANK3 in mouse models results in decreased synapse density and reduction in the levels of multiple synaptic proteins (Jiang and Ehlers, 2013). The family of SHANK scaffolding molecules are among the most heavily ubiquitinated proteins at the postsynaptic density. The ubiquitin-dependent proteasome degradation of SHANK is regulated by synaptic activity and may contribute to activity-dependent synaptic remodeling (Ehlers, 2003; Shin et al...
May 7, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29730711/pronounced-maternal-parent-of-origin-bias-for-type-1-nf1-microdeletions
#10
Lisa Neuhäusler, Anna Summerer, David N Cooper, Victor-F Mautner, Hildegard Kehrer-Sawatzki
Neurofibromatosis type 1 (NF1) is caused, in 4.7-11% of cases, by large deletions encompassing the NF1 gene and its flanking regions within 17q11.2. Different types of large NF1 deletion occur which are distinguishable by their breakpoint location and underlying mutational mechanism. Most common are the type-1 NF1 deletions of 1.4 Mb which exhibit recurrent breakpoints caused by nonallelic homologous recombination (NAHR), also termed unequal crossover. Here, we analyzed 37 unrelated families of patients with de novo type-1 NF1 deletions by means of short tandem repeat (STR) profiling to determine the parental origin of the deletions...
May 5, 2018: Human Genetics
https://www.readbyqxmd.com/read/29724786/autism-associated-neuroligin-4-mutation-selectively-impairs-glycinergic-synaptic-transmission-in-mouse-brainstem-synapses
#11
Bo Zhang, Ozgun Gokce, W Dylan Hale, Nils Brose, Thomas C Südhof
In human patients, loss-of-function mutations of the postsynaptic cell-adhesion molecule neuroligin-4 were repeatedly identified as monogenetic causes of autism. In mice, neuroligin-4 deletions caused autism-related behavioral impairments and subtle changes in synaptic transmission, and neuroligin-4 was found, at least in part, at glycinergic synapses. However, low expression levels precluded a comprehensive analysis of neuroligin-4 localization, and overexpression of neuroligin-4 puzzlingly impaired excitatory but not inhibitory synaptic function...
May 3, 2018: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/29724491/clinical-presentation-of-a-complex-neurodevelopmental-disorder-caused-by-mutations-in-adnp
#12
Anke Van Dijck, Anneke T Vulto-van Silfhout, Elisa Cappuyns, Ilse M van der Werf, Grazia M Mancini, Andreas Tzschach, Raphael Bernier, Illana Gozes, Evan E Eichler, Corrado Romano, Anna Lindstrand, Ann Nordgren, Malin Kvarnung, Tjitske Kleefstra, Bert B A de Vries, Sébastien Küry, Jill A Rosenfeld, Marije E Meuwissen, Geert Vandeweyer, R Frank Kooy
BACKGROUND: In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP gene are consistently reported among the most frequent. ADNP mutations have been identified in children with autism spectrum disorder comorbid with intellectual disability, distinctive facial features, and deficits in multiple organ systems. However, a comprehensive clinical description of the Helsmoortel-Van der Aa syndrome is lacking. METHODS: We identified a worldwide cohort of 78 individuals with likely disruptive mutations in ADNP from January 2014 to October 2016 through systematic literature search, by contacting collaborators, and through direct interaction with parents...
March 15, 2018: Biological Psychiatry
https://www.readbyqxmd.com/read/29723500/calcium-channels-synaptic-plasticity-and-neuropsychiatric-disease
#13
REVIEW
Evanthia Nanou, William A Catterall
Voltage-gated calcium channels couple depolarization of the cell-surface membrane to entry of calcium, which triggers secretion, contraction, neurotransmission, gene expression, and other physiological responses. They are encoded by ten genes, which generate three voltage-gated calcium channel subfamilies: CaV 1; CaV 2; and CaV 3. At synapses, CaV 2 channels form large signaling complexes in the presynaptic nerve terminal, which are responsible for the calcium entry that triggers neurotransmitter release and short-term presynaptic plasticity...
May 2, 2018: Neuron
https://www.readbyqxmd.com/read/29722793/autism-associated-16p11-2-microdeletion-impairs-prefrontal-functional-connectivity-in-mouse-and-human
#14
Alice Bertero, Adam Liska, Marco Pagani, Roberta Parolisi, Maria Esteban Masferrer, Marta Gritti, Matteo Pedrazzoli, Alberto Galbusera, Alessia Sarica, Antonio Cerasa, Mario Buffelli, Raffaella Tonini, Annalisa Buffo, Cornelius Gross, Massimo Pasqualetti, Alessandro Gozzi
Human genetic studies are rapidly identifying variants that increase risk for neurodevelopmental disorders. However, it remains unclear how specific mutations impact brain function and contribute to neuropsychiatric risk. Chromosome 16p11.2 deletion is one of the most common copy number variations in autism and related neurodevelopmental disorders. Using resting state functional MRI data from the Simons Variation in Individuals Project (VIP) database, we show that 16p11.2 deletion carriers exhibit impaired prefrontal connectivity, resulting in weaker long-range functional coupling with temporal-parietal regions...
May 2, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29720545/multifocal-demyelinating-motor-neuropathy-and-hamartoma-syndrome-associated-with-a-de-novo-pten-mutation
#15
Boglarka Bansagi, Vietxuan Phan, Mark R Baker, Julia O'Sullivan, Matthew J Jennings, Roger G Whittaker, Juliane S Müller, Jennifer Duff, Helen Griffin, James A L Miller, Grainne S Gorman, Hanns Lochmüller, Patrick F Chinnery, Andreas Roos, Laura E Swan, Rita Horvath
OBJECTIVE: To describe a patient with a multifocal demyelinating motor neuropathy with onset in childhood and a mutation in phosphatase and tensin homolog ( PTEN ), a tumor suppressor gene associated with inherited tumor susceptibility conditions, macrocephaly, autism, ataxia, tremor, and epilepsy. Functional implications of this protein have been investigated in Parkinson and Alzheimer diseases. METHODS: We performed whole-exome sequencing in the patient's genomic DNA validated by Sanger sequencing...
May 2, 2018: Neurology
https://www.readbyqxmd.com/read/29719671/delineation-of-the-genetic-and-clinical-spectrum-of-phelan-mcdermid-syndrome-caused-by-shank3-point-mutations
#16
Silvia De Rubeis, Paige M Siper, Allison Durkin, Jordana Weissman, François Muratet, Danielle Halpern, Maria Del Pilar Trelles, Yitzchak Frank, Reymundo Lozano, A Ting Wang, J Lloyd Holder, Catalina Betancur, Joseph D Buxbaum, Alexander Kolevzon
Background: Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by psychiatric and neurological features. Most reported cases are caused by 22q13.3 deletions, leading to SHANK3 haploinsufficiency, but also usually encompassing many other genes. While the number of point mutations identified in SHANK3 has increased in recent years due to large-scale sequencing studies, systematic studies describing the phenotype of individuals harboring such mutations are lacking...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29706633/a-pathogenic-role-for-germline-pten-variants-which-accumulate-into-the-nucleus
#17
Janire Mingo, Isabel Rodríguez-Escudero, Sandra Luna, Teresa Fernández-Acero, Laura Amo, Amy R Jonasson, Roberto T Zori, José I López, María Molina, Víctor J Cid, Rafael Pulido
The PTEN gene encodes a master regulator protein that exerts essential functions both in the cytoplasm and in the nucleus. PTEN is mutated in the germline of both patients with heterogeneous tumor syndromic diseases, categorized as PTEN hamartoma tumor syndrome (PHTS), and a group affected with autism spectrum disorders (ASD). Previous studies have unveiled the functional heterogeneity of PTEN variants found in both patient cohorts, making functional studies necessary to provide mechanistic insights related to their pathogenicity...
April 30, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29706350/a-saturation-mutagenesis-approach-to-understanding-pten-lipid-phosphatase-activity-and-genotype-phenotype-relationships
#18
Taylor L Mighell, Sara Evans-Dutson, Brian J O'Roak
Phosphatase and tensin homolog (PTEN) is a tumor suppressor frequently mutated in diverse cancers. Germline PTEN mutations are also associated with a range of clinical outcomes, including PTEN hamartoma tumor syndrome (PHTS) and autism spectrum disorder (ASD). To empower new insights into PTEN function and clinically relevant genotype-phenotype relationships, we systematically evaluated the effect of PTEN mutations on lipid phosphatase activity in vivo. Using a massively parallel approach that leverages an artificial humanized yeast model, we derived high-confidence estimates of functional impact for 7,244 single amino acid PTEN variants (86% of possible)...
April 23, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29704315/epigenetics-and-autism-spectrum-disorder-a-report-of-an-autism-case-with-mutation-in-h1-linker-histone-hist1h1e-and-literature-review
#19
Lara J Duffney, Purnima Valdez, Martine W Tremblay, Xinyu Cao, Sarah Montgomery, Allyn McConkie-Rosell, Yong-Hui Jiang
Genetic mutations in genes encoding proteins involved in epigenetic machinery have been reported in individuals with autism spectrum disorder (ASD), intellectual disability, congenital heart disease, and other disorders. H1 histone linker protein, the basic component in nucleosome packaging and chromatin organization, has not been implicated in human disease until recently. We report a de novo deleterious mutation of histone cluster 1 H1 family member e (HIST1H1E; c.435dupC; p.Thr146Hisfs*50), encoding H1 histone linker protein H1...
April 27, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29703944/an-integrative-analysis-of-non-coding-regulatory-dna-variations-associated-with-autism-spectrum-disorder
#20
Sarah M Williams, Joon Yong An, Janette Edson, Michelle Watts, Valentine Murigneux, Andrew J O Whitehouse, Colin J Jackson, Mark A Bellgrove, Alexandre S Cristino, Charles Claudianos
A number of genetic studies have identified rare protein-coding DNA variations associated with autism spectrum disorder (ASD), a neurodevelopmental disorder with significant genetic etiology and heterogeneity. In contrast, the contributions of functional, regulatory genetic variations that occur in the extensive non-protein-coding regions of the genome remain poorly understood. Here we developed a genome-wide analysis to identify the rare single nucleotide variants (SNVs) that occur in non-coding regions and determined the regulatory function and evolutionary conservation of these variants...
April 27, 2018: Molecular Psychiatry
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