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Xiao Chang, Huiqi Qu, Yichuan Liu, Joseph Glessner, Cuiping Hou, Fengxiang Wang, Jin Li, Patrick Sleiman, Hakon Hakonarson
Microduplication at 15q11.2 have been reported in genetic association studies of schizophrenia and autism. Given the potential overlap in psychiatric symptoms of schizophrenia and autism with anorexia nervosa (AN), we were inspired to test the association of this CNV locus with the genetic susceptibility of AN using ParseCNV, a highly quality controlled CNV pipeline developed by our group. The CNV analysis was performed in 1017 AN cases and 7250 controls using the Illumina HumanHap610 SNP arrays data. We uncovered association of the 15q11...
January 29, 2019: Journal of Psychiatric Research
Joel Frohlich, Meghan T Miller, Lynne M Bird, Pilar Garces, Hannah Purtell, Marius C Hoener, Benjamin D Philpot, Michael S Sidorov, Wen-Hann Tan, Maria-Clemencia Hernandez, Alexander Rotenberg, Shafali S Jeste, Michelle Krishnan, Omar Khwaja, Joerg F Hipp
BACKGROUND: Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by either disruptions of the gene UBE3A or deletion of chromosome 15 at 15q11-q13, which encompasses UBE3A and several other genes, including GABRB3, GABRA5, GABRG3, encoding gamma-aminobutyric acid type A receptor subunits (β3, α5, γ3). Individuals with deletions are generally more impaired than those with other genotypes, but the underlying pathophysiology remains largely unknown. Here, we used electroencephalography (EEG) to test the hypothesis that genes other than UBE3A located on 15q11-q13 cause differences in pathophysiology between AS genotypes...
January 19, 2019: Biological Psychiatry
Chang Liu, Xiangzhong Zhang, Jicheng Wang, Yan Zhang, Anshi Wang, Jian Lu, Yanlin Huang, Shu Liu, Jing Wu, Li Du, Jie Yang, Hongke Ding, Ling Liu, Xin Zhao, Aihua Yin
Background: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct neurodevelopmental disorders caused by absence of paternally or maternally expressed imprinted genes on chromosome 15q11.2-q13.3 region. Methods: 3331 individuals was recruited from June 2013 to December 2016 under an institutional review board-approved protocol of informed consent. The methylation-specific PCR was employed as a first-tier screening test. The multiplex-fluorescent-labeled STR linkage analysis was carried out to define the underlying genetic mechanisms...
2019: Molecular Cytogenetics
Mark Drakesmith, Greg D Parker, Jacqueline Smith, Stefanie C Linden, Elliott Rees, Nigel Williams, Michael J Owen, Marianne van den Bree, Jeremy Hall, Derek K Jones, David E J Linden
Genomic copy number variants (CNVs) are amongst the most highly penetrant genetic risk factors for neuropsychiatric disorders. The scarcity of carriers of individual CNVs and their phenotypical heterogeneity limits investigations of the associated neural mechanisms and endophenotypes. We applied a novel design based on CNV penetrance for schizophrenia (Sz) and developmental delay (DD) that allows us to identify structural sequelae that are most relevant to neuropsychiatric disorders. Our focus on brain structural abnormalities was based on the hypothesis that convergent mechanisms contributing to neurodevelopmental disorders would likely manifest in the macro- and microstructure of white matter and cortical and subcortical grey matter...
February 25, 2019: Translational Psychiatry
Kevin A Hope, Addison McGinn, Lawrence T Reiter
The genetics underlying autism spectrum disorder (ASD) are complex. Approximately 3-5% of ASD cases arise from maternally inherited duplications of 15q11.2-q13.1, termed Duplication 15q syndrome (Dup15q). 15q11.2-q13.1 includes the gene UBE3A which is believed to underlie ASD observed in Dup15q syndrome. UBE3A is an E3 ubiquitin ligase that targets proteins for degradation and trafficking, so finding UBE3A substrates and interacting partners is critical to understanding Dup15q ASD. In this study, we take an unbiased genetics approach to identify genes that genetically interact with Dube3a, the Drosophila melanogaster homolog of UBE3A...
February 20, 2019: Scientific Reports
Sonal Saxena, Poornima Kkani, Chellamuthu Ramasubramanian, Srinivasan Ganesh Kumar, Raghav Monisha, Gundugurti Prasad Rao, Kommu Naga Mohan
Copy number variants (CNVs) of 15q11.2 yielded conflicting reports on their association with schizophrenia (SZ), indicating the need for replication studies. Because there are no 15q11.2 CNV studies on Indian patients, we began by testing 307 SZ patients and 359 age- and sex-matched controls from South India. Using an improved multiplex ligation probe amplification, six deletions were found in patients and three in controls (p = 0.31), whereas one duplication was found in patients and three in controls (p = 0...
February 19, 2019: Annals of Human Genetics
Mi-Ryung Han, Kyu-Man Han, Aram Kim, Wooyoung Kang, Youbin Kang, June Kang, Eunsoo Won, Woo-Suk Tae, Yunjung Cho, Byung-Joo Ham
BACKGROUND: Bipolar disorder (BD) is one of the most heritable psychiatric disorders. A growing number of whole-exome sequencing (WES) studies for BD has been performed, however, no research has examined the association between single nucleotide variants (SNVs) from WES and structural magnetic resonance imaging (MRI) data. METHODS: We sequenced whole-exomes in 53 patients with BD and 82 healthy control participants at an initial discovery stage and investigated the impacts of SNVs in risk genes from WES analysis on the cortical gray-matter thickness and integrity of white matter tracts and in the following stage...
February 11, 2019: Journal of Affective Disorders
Monika Migdalska-Sęk, Karolina H Czarnecka, Michał Kusiński, Dorota Pastuszak-Lewandoska, Ewa Nawrot, Krzysztof Kuzdak, Ewa Brzeziańska-Lasota
BACKGROUND: Loss of heterozygosity (LOH) and microsatellite instability (MSI) are frequent molecular events in thyroid tumor etiopathogenesis occurring in several chromosomal critical areas, including 3p12-25.3, 7q21-31, 10q22-24, and 15q11-13, with loci of tumor suppressor genes. OBJECTIVE: We evaluated the usefulness of LOH/MSI as a diagnostic/prognostic biomarker in lesions derived from thyroid follicular cells: follicular thyroid carcinoma (FTC); follicular adenoma (FA), papillary thyroid carcinoma (PTC), and nodular goiter (NG)...
February 11, 2019: Molecular Diagnosis & Therapy
Lorenzo Iughetti, Giulia Vivi, Antonio Balsamo, Andrea Corrias, Antonino Crinò, Maurizio Delvecchio, Luigi Gargantini, Nella Augusta Greggio, Graziano Grugni, Uros Hladnik, Alba Pilotta, Letizia Ragusa, Alessandro Salvatoni, Malgorzata Wasniewska, Giovanna Weber, Barbara Predieri
Background Prader-Willi syndrome (PWS) is a genetic disorder due to loss of expression of paternally transcribed genes of the imprinted region of chromosome 15q11-13. PWS is characterized by peculiar signs and symptoms and many endocrine abnormalities have been described (growth hormone deficiency, hypogonadotropic hypogonadism). The abnormalities of thyroid function are discussed in literature and published data are discordant. The aim of our study was to report the thyroid function in patients with PWS to identify the prevalence of thyroid dysfunction...
February 25, 2019: Journal of Pediatric Endocrinology & Metabolism: JPEM
Sven O Bachmann, Monika Sledziowska, Ellen Cross, Shireene Kalbassi, Sophie Waldron, Chen Fangli, Stéphane J Baudouin, Adam Ranson
Deletions in the 15q11.2 region of the human genome are associated with neurobehavioral deficits, and motor development delay, as well as in some cases, symptoms of autism or schizophrenia. The cytoplasmic FMRP-interacting protein 1 (CYFIP1) is one of the four genes contained within this locus and has been associated with other genetic forms of autism spectrum disorders (ASD). In mice, Cyfip1 haploinsufficiency leads to alteration of dendritic spine morphology and defects in synaptic plasticity, two pathophysiological hallmarks of mouse models of ASD...
January 21, 2019: Translational Psychiatry
Adriana M Azor, James H Cole, Anthony J Holland, Maureen Dumba, Maneesh C Patel, Angelique Sadlon, Anthony P Goldstone, Katherine E Manning
Prader-Willi syndrome (PWS) is the most common genetic obesity syndrome, with associated learning difficulties, neuroendocrine deficits, and behavioural and psychiatric problems. As the life expectancy of individuals with PWS increases, there is concern that alterations in brain structure associated with the syndrome, as a direct result of absent expression of PWS genes, and its metabolic complications and hormonal deficits, might cause early onset of physiological and brain aging. In this study, a machine learning approach was used to predict brain age based on grey matter (GM) and white matter (WM) maps derived from structural neuroimaging data using T1-weighted magnetic resonance imaging (MRI) scans...
January 10, 2019: NeuroImage: Clinical
Waliul Chowdhury, Pooja Patak, Farjahan J Chowdhury, Hasnan M Ijaz, Tehmina Zafar, Nick Chatla, Ahmad Khiami
Burnside Butler syndrome or 15q11.2 microdeletion syndrome is a relatively rare chromosomal abnormality that is recently being recognized. Current diagnostic techniques like chromosomal microarray analysis (CMA) have profoundly contributed to currently reported cases. The diagnostic dilemma is that prenatal screening and karyotype analysis typically yield unclear results. We would like to emphasize the importance of taking a detailed family history, knowing the classic clinical features, and using CMA to help diagnose this syndrome...
November 5, 2018: Curēus
Woori Jang, Yonggoo Kim, Eunhee Han, Joonhong Park, Hyojin Chae, Ahlm Kwon, Hayoung Choi, Jiyeon Kim, Jung Ok Son, Sang Jee Lee, Bo Young Hong, Dae Hyun Jang, Ji Yoon Han, Jung Hyun Lee, So Young Kim, In Goo Lee, In Kyung Sung, Yeonsook Moon, Myungshin Kim, Joo Hyun Park
BACKGROUND: To validate the clinical application of chromosomal microarray analysis (CMA) as a first-tier clinical diagnostic test and to determine the impact of CMA results on patient clinical management, we conducted a multicenter prospective study in Korean patients diagnosed as having developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), and multiple congenital anomalies (MCA). METHODS: We performed both CMA and G-banding cytogenetics as the first-tier tests in 617 patients...
May 2019: Annals of Laboratory Medicine
Takeshi Niki, Keiko Imamura, Takako Enami, Masako Kinoshita, Haruhisa Inoue
Angelman syndrome is a rare neurodevelopmental disorder caused by the loss of function of the maternally expressed E3 ubiquitin ligase UBE3A. We established human induced pluripotent stem cells (iPSCs) from an Angelman syndrome patient with the deletion of maternal 15q11.2-q13 including UBE3A gene. The generated iPSC line showed pluripotency markers and the ability of in vitro differentiation into the three-germ layer. FISH analysis and methylation-specific PCR analysis of genomic DNA revealed the deletion of maternal 15q11...
December 10, 2018: Stem Cell Research
Ana I Silva, Magnus O Ulfarsson, Hreinn Stefansson, Omar Gustafsson, G Bragi Walters, David E J Linden, Lawrence S Wilkinson, Mark Drakesmith, Michael J Owen, Jeremy Hall, Kari Stefansson
BACKGROUND: The 15q11.2 BP1-BP2 cytogenetic region has been associated with learning and motor delays, autism, and schizophrenia. This region includes a gene that codes for the cytoplasmic FMR1 interacting protein 1 (CYFIP1). The CYFIP1 protein is involved in actin cytoskeletal dynamics and interacts with the fragile X mental retardation protein. Absence of fragile X mental retardation protein causes fragile X syndrome. Because abnormal white matter microstructure has been reported in both fragile X syndrome and psychiatric disorders, we looked at the impact of 15q11...
November 19, 2018: Biological Psychiatry
Jennifer Proffitt, Kathryn Osann, Barbara McManus, Virginia E Kimonis, Janalee Heinemann, Merlin G Butler, David A Stevenson, June-Anne Gold
Prader-Willi syndrome (PWS) is a multi-system disorder resulting from a lack of paternal gene expression in the 15q11.2-q13 region. Using databases compiled through response questionnaires completed by families known to the Prader-Willi Syndrome Association (USA), this study tested the hypothesis that PWS genetic subtype, BMI, age of diagnosis, clinical symptoms, and growth hormone treatment differ among deceased and living individuals with PWS. Categorical and continuous variables were compared using chi-square and two-group t tests, respectively...
December 19, 2018: American Journal of Medical Genetics. Part A
Stephen S Tran, Hyun-Ik Jun, Jae Hoon Bahn, Adel Azghadi, Gokul Ramaswami, Eric L Van Nostrand, Thai B Nguyen, Yun-Hua E Hsiao, Changhoon Lee, Gabriel A Pratt, Verónica Martínez-Cerdeño, Randi J Hagerman, Gene W Yeo, Daniel H Geschwind, Xinshu Xiao
Transcriptomic analyses of postmortem brains have begun to elucidate molecular abnormalities in autism spectrum disorder (ASD). However, a crucial pathway involved in synaptic development, RNA editing, has not yet been studied on a genome-wide scale. Here we profiled global patterns of adenosine-to-inosine (A-to-I) editing in a large cohort of postmortem brains of people with ASD. We observed a global bias for hypoediting in ASD brains, which was shared across brain regions and involved many synaptic genes...
January 2019: Nature Neuroscience
Aleš Maver, Goran Čuturilo, Anja Kovanda, Aleksandra Miletić, Borut Peterlin
Primary microcephalies (MCPH) are characterized by microcephaly (HC -2 SD at birth) in the absence of visceral malformations. To date, less than 20 genes have been associated with MCHP, several of which are involved in the formation and function of the centrosome. Here, we report a novel missense variant in the TUBGCP5 gene in a patient with primary microcephaly and mild developmental delay. The TUBCGP5 gene (tubulin gamma complex associated protein 5) is a paralog of TUBGCP4 and TUBGCP6, both of which are known MCPH associated genes, and like its' paralogs, is involved in centrosome formation...
December 10, 2018: European Journal of Medical Genetics
K Naga Mohan, Ye Cao, Justin Pham, Sau Wai Cheung, Lori Hoffner, Z Zishuo Ou, Urvashi Surti, Edwin H Cook, Arthur L Beaudet
In view of conflicting reports on the pathogenicity of 15q11.2 CNVs of the breakpoints 1-2 (BP1-BP2) region and lack of association with a specific phenotype, we collected phenotypic data on 51,462 patients referred for genetic testing at two centers (Magee-Womens Hospital of UPMC and Baylor Genetics Laboratories, Baylor College of Medicine). Using array CGH, 262 patients with deletions and 215 with duplications were identified and tested for their association with four phenotypes (developmental delay, dysmorphic features, autism group of disorders, and epilepsy/seizures)...
December 12, 2018: Journal of Human Genetics
Yuka Sato, Shigeo Okabe
Circuit-level alternations in patients of autism spectrum disorder (ASD) is under active investigation and detailed characterization of synapse morphology in ASD model mice should be informative. We utilized focused ion beam milling and scanning electron microscopy (FIB-SEM) to obtain three-dimensional images of synapses in the layer 2/3 of the somatosensory cortex from a mouse model for ASD with human 15q11-13 chromosomal duplication (15q dup mice). We found a trend of higher spine density and a higher fraction of astrocytic contact with both spine and shaft synapses in 15q dup mice...
October 29, 2018: Microscopy
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