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https://www.readbyqxmd.com/read/28096781/a-replication-study-of-schizophrenia-related-rare-copy-number-variations-in-a-han-southern-chinese-population
#1
Jianmin Yuan, Jianlin Hu, Zhiqiang Li, Fuquan Zhang, Dexiang Zhou, Chunhui Jin
BACKGROUND: Schizophrenia (SCZ) is a common, complex and severe psychiatric disorder associated with many different genetic and environmental risk factors. Evidence from genetic studies has revealed the role of genome structural variations, specifically copy number variants (CNVs), in the etiology of SCZ. Nevertheless, the occurrence of CNVs and their relation to SCZ has remained relatively unstudied in the diverse Han Chinese population. RESULTS: We used a case/control paradigm, including 476 cases and 1023 controls...
2017: Hereditas
https://www.readbyqxmd.com/read/28065648/taok2-kinase-mediates-psd95-stability-and-dendritic-spine-maturation-through-septin7-phosphorylation
#2
Smita Yadav, Juan A Oses-Prieto, Christian J Peters, Jing Zhou, Samuel J Pleasure, Alma L Burlingame, Lily Y Jan, Yuh-Nung Jan
Abnormalities in dendritic spines are manifestations of several neurodevelopmental and psychiatric diseases. TAOK2 is one of the genes in the 16p11.2 locus, copy number variations of which are associated with autism and schizophrenia. Here, we show that the kinase activity of the serine/threonine kinase encoded by TAOK2 is required for spine maturation. TAOK2 depletion results in unstable dendritic protrusions, mislocalized shaft-synapses, and loss of compartmentalization of NMDA receptor-mediated calcium influx...
January 18, 2017: Neuron
https://www.readbyqxmd.com/read/28054739/compound-heterozygosity-for-null-mutations-and-a-common-hypomorphic-risk-haplotype-in-tbx6-causes-congenital-scoliosis
#3
Kazuki Takeda, Ikuyo Kou, Noriaki Kawakami, Aritoshi Iida, Masahiro Nakajima, Yoji Ogura, Eri Imagawa, Noriko Miyake, Naomichi Matsumoto, Yukuto Yasuhiko, Hideki Sudo, Toshiaki Kotani, Masaya Nakamura, Morio Matsumoto, Kota Watanabe, Shiro Ikegawa
Congenital scoliosis (CS) occurs as a result of vertebral malformations and has an incidence of 0.5-1/1,000 births. Recently, TBX6 on chromosome 16p11.2 was reported as a disease gene for CS; about 10% of Chinese CS patients were compound heterozygotes for rare null mutations and a common haplotype defined by three SNPs in TBX6. All patients had hemivertebrae. We recruited 94 Japanese CS patients, investigated the TBX6 locus for both mutations and the risk haplotype, examined transcriptional activities of mutant TBX6 in vitro, and evaluated clinical and radiographic features...
January 5, 2017: Human Mutation
https://www.readbyqxmd.com/read/28000106/knockdown-of-nupr1-inhibits-the-proliferation-of-glioblastoma-cells-via-erk1-2-p38-mapk-and-caspase-3
#4
Jun Li, Siyang Ren, Yongjian Liu, Zhigang Lian, Bin Dong, Yiqun Yao, Yinghui Xu
Nuclear protein-1 (NUPR1), located on chromosome 16p11.2, is a stress response factor that plays an important role in the growth and migration of human malignant tumor cells. However, the role of NUPR1 in glioblastoma remains poorly understood. The expression level of NUPR1 was detected by quantitative real-time PCR and immunohistochemistry (IHC). Wound healing, MTT, cell counting and BrdU assays were used to analyze the migration and proliferation of glioblastoma cells after down-regulating NUPR1 expression using a lentiviral vector...
December 20, 2016: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/27920636/identifying-cnvs-in-15q11q13-and-16p11-2-of-patients-with-seizures-increases-the-rates-of-detecting-pathogenic-changes
#5
Gabrielle S Vianna, Mariana L Freitas, Valdirene T de Oliveira, Rafaella X Pietra, Michele da S Gonçalves, Patrícia P O Rocha, Rejane A C Monteiro, Luana C A Ferreira, Rosana R Xavier, Andréia M Carvalho, Patrícia R de M Lima, Maria Augusta N P Monteiro, Elvis C Mateo, Juliana G Giannetti, Giovana da C César, Joziele de S Lima, Paula F V Medeiros, Fernanda S Jehee
Chromosomal changes are frequently observed in patients with syndromic seizures. Understanding the genetic etiology of this pathology is crucial for the guidance and genetic counseling of families as well as for the establishment of appropriate treatment. A combination of MLPA kits was used to identify pathogenic CNVs in a group of 70 syndromic patients with seizures. Initially, a screening was performed for subtelomeric changes (MLPA P036 and P070 kits) and for the regions most frequently related to microdeletion/microduplication syndromes (MLPA P064)...
November 2016: Molecular Syndromology
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
#6
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/27889382/rare-and-common-variants-at-16p11-2-are-associated-with-schizophrenia
#7
Hong Chang, Lingyi Li, Ming Li, Xiao Xiao
Recent studies suggest that both common and rare variants are involved in the genetic risk of schizophrenia. Using a Cochran-Mantel-Haenszel (CMH) adjusted meta-analysis in 36,676 schizophrenia patients and 48,331 healthy controls from 24 independent samples, we identify the microduplications at 16p11.2 locus (29.6-30.2Mb, hg19) to be strongly associated with the illness (P value<2.2×10(-16), CHM-adjusted OR=10.79). The frequency of this microduplication is significantly higher in schizophrenia patients (0...
November 23, 2016: Schizophrenia Research
https://www.readbyqxmd.com/read/27869829/contribution-of-copy-number-variants-to-schizophrenia-from-a-genome-wide-study-of-41-321-subjects
#8
(no author information available yet)
Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes. We sought to address this obstacle by applying a centralized analysis pipeline to a SCZ cohort of 21,094 cases and 20,227 controls. A global enrichment of CNV burden was observed in cases (odds ratio (OR) = 1.11, P = 5.7 × 10(-15)), which persisted after excluding loci implicated in previous studies (OR = 1...
January 2017: Nature Genetics
https://www.readbyqxmd.com/read/27861764/autosomal-recessive-variations-of-tbx6-from-congenital-scoliosis-to-spondylocostal-dysostosis
#9
M Lefebvre, Y Duffourd, T Jouan, C Poe, N Jean-Marçais, A Verloes, J St-Onge, J-B Riviere, F Petit, G Pierquin, B Demeer, P Callier, C Thauvin-Robinet, L Faivre, J Thevenon
Proximal 16p11.2 microdeletions are recurrent microdeletions with an overall prevalence of 0.03%. In patients with segmentation defects of the vertebra (SDV), a burden of this microdeletion was observed with TBX6 as a candidate gene for SDV. In a published cohort of patients with congenital scoliosis (CS), TBX6 haploinsufficiency was compound heterozygous with a common haplotype. Besides, a single three-generation family with spondylocostal dysostosis (SCD) was reported with a heterozygous stop-loss of TBX6...
November 8, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27832746/exome-sequencing-identifies-pathogenic-variants-of-vps13b-in-a-patient-with-familial-16p11-2-duplication
#10
Jila Dastan, Chieko Chijiwa, Flamingo Tang, Sally Martell, Ying Qiao, Evica Rajcan-Separovic, M E Suzanne Lewis
BACKGROUND: The recurrent microduplication of 16p11.2 (dup16p11.2) is associated with a broad spectrum of neurodevelopmental disorders (NDD) confounded by incomplete penetrance and variable expressivity. This inter- and intra-familial clinical variability highlights the importance of personalized genetic counselling in individuals at-risk. CASE PRESENTATION: In this study, we performed whole exome sequencing (WES) to look for other genomic alterations that could explain the clinical variability in a family with a boy presenting with NDD who inherited the dup16p11...
November 10, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27759917/implication-of-lrrc4c-and-dpp6-in-neurodevelopmental-disorders
#11
Gilles Maussion, Cristiana Cruceanu, Jill A Rosenfeld, Scott C Bell, Fabrice Jollant, Jin Szatkiewicz, Ryan L Collins, Carrie Hanscom, Ilaria Kolobova, Nicolas Menjot de Champfleur, Ian Blumenthal, Colby Chiang, Vanessa Ota, Christina Hultman, Colm O'Dushlaine, Steve McCarroll, Martin Alda, Sebastien Jacquemont, Zehra Ordulu, Christian R Marshall, Melissa T Carter, Lisa G Shaffer, Pamela Sklar, Santhosh Girirajan, Cynthia C Morton, James F Gusella, Gustavo Turecki, Dimitri J Stavropoulos, Patrick F Sullivan, Stephen W Scherer, Michael E Talkowski, Carl Ernst
We performed whole-genome sequencing on an individual from a family with variable psychiatric phenotypes that had a sensory processing disorder, apraxia, and autism. The proband harbored a maternally inherited balanced translocation (46,XY,t(11;14)(p12;p12)mat) that disrupted LRRC4C, a member of the highly specialized netrin G family of axon guidance molecules. The proband also inherited a paternally derived chromosomal inversion that disrupted DPP6, a potassium channel interacting protein. Copy Number (CN) analysis in 14,077 cases with neurodevelopmental disorders and 8,960 control subjects revealed that 60% of cases with exonic deletions in LRRC4C had a second clinically recognizable syndrome associated with variable clinical phenotypes, including 16p11...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27739237/hyperactivity-and-male-specific-sleep-deficits-in-the-16p11-2-deletion-mouse-model-of-autism
#12
Christopher C Angelakos, Adam J Watson, W Timothy O'Brien, Kyle S Krainock, Thomas Nickl-Jockschat, Ted Abel
Sleep disturbances and hyperactivity are prevalent in several neurodevelopmental disorders, including autism spectrum disorders (ASDs) and attention deficit-hyperactivity disorder (ADHD). Evidence from genome-wide association studies indicates that chromosomal copy number variations (CNVs) are associated with increased prevalence of these neurodevelopmental disorders. In particular, CNVs in chromosomal region 16p11.2 profoundly increase the risk for ASD and ADHD, disorders that are more common in males than females...
October 14, 2016: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/27668412/identification-of-rare-variants-in-kctd13-at-the-schizophrenia-risk-locus-16p11-2
#13
Franziska Degenhardt, Barbara Heinemann, Jana Strohmaier, Marvin A Pfohl, Ina Giegling, Andrea Hofmann, Kerstin U Ludwig, Stephanie H Witt, Michael Ludwig, Andreas J Forstner, Margot Albus, Sibylle G Schwab, Margitta Borrmann-Hassenbach, Leonard Lennertz, Michael Wagner, Per Hoffmann, Dan Rujescu, Wolfgang Maier, Sven Cichon, Marcella Rietschel, Markus M Nöthen
Duplications in 16p11.2 are a risk factor for schizophrenia (SCZ). Using genetically modified zebrafish, Golzio and colleagues identified KCTD13 within 16p11.2 as a major driver of the neuropsychiatric phenotype observed in humans. The aims of the present study were to explore the role of KCTD13 in the development of SCZ and to provide a more complete picture of the allelic architecture at this risk locus. The exons of KCTD13 were sequenced in 576 patients. The mutations c.6G>T and c.598G>A were identified in one patient each...
December 2016: Psychiatric Genetics
https://www.readbyqxmd.com/read/27650969/chromosomal-microarray-testing-in-adults-with-intellectual-disability-presenting-with-comorbid-psychiatric-disorders
#14
Kate Wolfe, André Strydom, Deborah Morrogh, Jennifer Carter, Peter Cutajar, Mo Eyeoyibo, Angela Hassiotis, Jane McCarthy, Raja Mukherjee, Dimitrios Paschos, Nagarajan Perumal, Stephen Read, Rohit Shankar, Saif Sharif, Suchithra Thirulokachandran, Johan H Thygesen, Christine Patch, Caroline Ogilvie, Frances Flinter, Andrew McQuillin, Nick Bass
Chromosomal copy-number variations (CNVs) are a class of genetic variants highly implicated in the aetiology of neurodevelopmental disorders, including intellectual disabilities (ID), schizophrenia and autism spectrum disorders (ASD). Yet the majority of adults with idiopathic ID presenting to psychiatric services have not been tested for CNVs. We undertook genome-wide chromosomal microarray analysis (CMA) of 202 adults with idiopathic ID recruited from community and in-patient ID psychiatry services across England...
January 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27648915/characterizing-cognitive-control-abilities-in-children-with-16p11-2-deletion-using-adaptive-video-game-technology-a-pilot-study
#15
J A Anguera, A N Brandes-Aitken, C E Rolle, S N Skinner, S S Desai, J D Bower, W E Martucci, W K Chung, E H Sherr, E J Marco
Assessing cognitive abilities in children is challenging for two primary reasons: lack of testing engagement can lead to low testing sensitivity and inherent performance variability. Here we sought to explore whether an engaging, adaptive digital cognitive platform built to look and feel like a video game would reliably measure attention-based abilities in children with and without neurodevelopmental disabilities related to a known genetic condition, 16p11.2 deletion. We assessed 20 children with 16p11.2 deletion, a genetic variation implicated in attention deficit/hyperactivity disorder and autism, as well as 16 siblings without the deletion and 75 neurotypical age-matched children...
2016: Translational Psychiatry
https://www.readbyqxmd.com/read/27591345/prenatal-array-comparative-genomic-hybridization-in-fetuses-with-structural-cardiac-anomalies
#16
Joanna Lazier, Deborah Fruitman, Julie Lauzon, Francois Bernier, Bob Argiropoulos, Judy Chernos, Oana Caluseriu, Rebecca Simrose, Mary Ann Thomas
OBJECTIVES: To examine the diagnostic performance of array comparative genomic hybridization (CGH) for fetal cardiac anomalies in two medium-sized Canadian prenatal genetics clinics. METHODS: We prospectively recruited 22 pregnant women with fetal structural cardiac anomalies, normal rapid aneuploidy detection, and FISH for 22q11.2 testing for array CGH analysis. RESULTS: One case had an 8p deletion that was also visible on karyotype and included the GATA4 gene, which has been associated with congenital heart disease...
July 2016: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/27579173/challenges-in-detecting-genomic-copy-number-aberrations-using-next-generation-sequencing-data-and-the-exome-hidden-markov-model-a-clinical-exome-first-diagnostic-approach
#17
Toshiyuki Yamamoto, Keiko Shimojima, Yumiko Ondo, Katsumi Imai, Pin Fee Chong, Ryutaro Kira, Mitsuhiro Amemiya, Akira Saito, Nobuhiko Okamoto
Next-generation sequencing (NGS) is widely used for the detection of disease-causing nucleotide variants. The challenges associated with detecting copy number variants (CNVs) using NGS analysis have been reported previously. Disease-related exome panels such as Illumina TruSight One are more cost-effective than whole-exome sequencing (WES) because of their selective target regions (~21% of the WES). In this study, CNVs were analyzed using data extracted through a disease-related exome panel analysis and the eXome Hidden Markov Model (XHMM)...
2016: Human Genome Variation
https://www.readbyqxmd.com/read/27519580/copy-number-variation-analysis-in-adults-with-catatonia-confirms-haploinsufficiency-of-shank3-as-a-predisposing-factor
#18
Jeroen Breckpot, Marieke Vercruyssen, Eddy Weyts, Sean Vandevoort, Greet D'Haenens, Griet Van Buggenhout, Lore Leempoels, Elise Brischoux-Boucher, Lionel Van Maldergem, Alessandra Renieri, Maria Antonietta Mencarelli, Carla D'Angelo, Veronica Mericq, Mariette J Hoffer, Maithé Tauber, Catherine Molinas, Claudia Castiglioni, Nathalie Brison, Joris R Vermeesch, Marina Danckaerts, Pascal Sienaert, Koenraad Devriendt, Annick Vogels
BACKGROUND: Catatonia is a motor dysregulation syndrome co-occurring with a variety of psychiatric and medical disorders. Response to treatment with benzodiazepines and electroconvulsive therapy suggests a neurobiological background. The genetic etiology however remains largely unexplored. Copy Number Variants (CNV), known to predispose to neurodevelopmental disorders, may play a role in the etiology of catatonia. METHODS: This study is exploring the genetic field of catatonia through CNV analysis in a cohort of psychiatric patients featuring intellectual disability and catatonia...
September 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27489308/copy-number-variations-are-enriched-for-neurodevelopmental-genes-in-children-with-developmental-coordination-disorder
#19
Stephen J Mosca, Lisa Marie Langevin, Deborah Dewey, A Micheil Innes, Anath C Lionel, Christian C Marshall, Stephen W Scherer, Jillian S Parboosingh, Francois P Bernier
BACKGROUND: Developmental coordination disorder is a common neurodevelopment disorder that frequently co-occurs with other neurodevelopmental disorders including attention-deficit hyperactivity disorder (ADHD). Copy-number variations (CNVs) have been implicated in a number of neurodevelopmental and psychiatric disorders; however, the proportion of heritability in developmental coordination disorder (DCD) attributed to CNVs has not been explored. OBJECTIVE: This study aims to investigate how CNVs may contribute to the genetic architecture of DCD...
August 3, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27487209/emergence-of-a-homo-sapiens-specific-gene-family-and-chromosome-16p11-2-cnv-susceptibility
#20
Xander Nuttle, Giuliana Giannuzzi, Michael H Duyzend, Joshua G Schraiber, Iñigo Narvaiza, Peter H Sudmant, Osnat Penn, Giorgia Chiatante, Maika Malig, John Huddleston, Chris Benner, Francesca Camponeschi, Simone Ciofi-Baffoni, Holly A F Stessman, Maria C N Marchetto, Laura Denman, Lana Harshman, Carl Baker, Archana Raja, Kelsi Penewit, Nicolette Janke, W Joyce Tang, Mario Ventura, Lucia Banci, Francesca Antonacci, Joshua M Akey, Chris T Amemiya, Fred H Gage, Alexandre Reymond, Evan E Eichler
Genetic differences that specify unique aspects of human evolution have typically been identified by comparative analyses between the genomes of humans and closely related primates, including more recently the genomes of archaic hominins. Not all regions of the genome, however, are equally amenable to such study. Recurrent copy number variation (CNV) at chromosome 16p11.2 accounts for approximately 1% of cases of autism and is mediated by a complex set of segmental duplications, many of which arose recently during human evolution...
August 11, 2016: Nature
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