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https://www.readbyqxmd.com/read/27667142/a-neonate-with-a-unique-non-down-syndrome-transient-proliferative-megakaryoblastic-disease
#1
Eline J M Bertrums, Arjan Buijs, Martine van Grotel, Natasja Dors, Jasmijn D E de Rooij, Valerie de Haas, Sanne Hopman, Marjolijn C J Jongmans, C M Zwaan, Marry M van den Heuvel-Eibrink
Transient myeloproliferative disorder (TMD) is a leukemia type that occurs typically in newborns. In Down syndrome, TMD is referred to as transient abnormal myelopoiesis (TAM).(32) Recently, transientness has also been reported in acute myeloid leukemia patients with germline trisomy 21 mosaicism, and even in cases with somatic trisomy 21, with or without GATA1 mutations. TMD cases without trisomy 21 are rare, and recurrent genetic aberrations that aid in clinical decision-making are scarcely described. We describe here a TMD patient without trisomy 21 or GATA1 mutation in whom single-nucleotide polymorphism analysis of leukemic blasts revealed a novel combined submicroscopic deletion (5q31...
September 26, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27595042/scn2a-related-early-onset-epileptic-encephalopathy-responsive-to-phenobarbital
#2
Fiona M Baumer, Jurriaan M Peters, Christelle M El Achkar, Phillip L Pearl
Voltage-gated sodium channels (Nav) are critical regulators of neuronal excitability. Genes for the α-subunits of three sodium channel subtypes-SCN1A, SCN2A, and SCN3A-are all located on chromosome 2q24. A full-term boy with an unremarkable birth history presented at 1 month of age with unusual movements that had started on day of life 2. Exam was notable for lack of visual attention, hypotonia, and hyperreflexia. Electroencephalogram (EEG) showed an invariant burst suppression with multifocal spikes, ictal episodes with bicycling movements associated with buildups of rhythmic activity, and epileptic spasms...
March 2016: Journal of Pediatric Epilepsy
https://www.readbyqxmd.com/read/27569545/rare-inherited-and-de-novo-cnvs-reveal-complex-contributions-to-asd-risk-in-multiplex-families
#3
Virpi M Leppa, Stephanie N Kravitz, Christa Lese Martin, Joris Andrieux, Cedric Le Caignec, Dominique Martin-Coignard, Christina DyBuncio, Stephan J Sanders, Jennifer K Lowe, Rita M Cantor, Daniel H Geschwind
Rare mutations, including copy-number variants (CNVs), contribute significantly to autism spectrum disorder (ASD) risk. Although their importance has been established in families with only one affected child (simplex families), the contribution of both de novo and inherited CNVs to ASD in families with multiple affected individuals (multiplex families) is less well understood. We analyzed 1,532 families from the Autism Genetic Resource Exchange (AGRE) to assess the impact of de novo and rare CNVs on ASD risk in multiplex families...
September 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27153334/whole-gene-duplication-of-scn2a-and-scn3a-is-associated-with-neonatal-seizures-and-a-normal-intellectual-development
#4
Ann-Charlotte Thuresson, Griet Van Buggenhout, Frenny Sheth, Mahesh Kamate, Joris Andrieux, Jill Clayton Smith, Cecilia Soussi Zander
Duplications at 2q24.3 encompassing the voltage-gated sodium channel gene cluster are associated with early onset epilepsy. All cases described in the literature have presented in addition with different degrees of intellectual disability, and have involved neighbouring genes in addition to the sodium channel gene cluster. Here we report eight new cases with overlapping duplications at 2q24 ranging from 0.05 Mb to 7.63 Mb in size. Taken together with the previously reported cases, our study suggests that having an extra copy of SCN2A has an effect on epilepsy pathogenesis, causing benign familial infantile seizures which eventually disappear at the age of one to two years...
May 6, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27020790/interstitial-11q24-deletion-a-new-case-and-review-of-the-literature
#5
Elisa Tassano, Sara Janis, Alberto Canepa, Elisabetta Zanotto, Corrado Torello, Giorgio Gimelli, Cristina Cuoco
We describe a 19-month-old male presenting with right stenotic megaureter, anemia and thrombocytopenia, cardiac and ophthalmologic abnormalities. Analysis with array-based comparative genomic hybridization (aCGH) revealed an interstitial deletion of about 2.4 Mb of chromosome 11q24.2q24.3. We compared the phenotype of our patient with that of recently reported patients studied by aCGH, who showed an overlapping deletion. We also analysed the gene content of the deleted region in order to investigate the possible involvement of specific genes in the clinical phenotype...
August 2016: Journal of Applied Genetics
https://www.readbyqxmd.com/read/26892345/de-novo-14q24-2q24-3-microdeletion-including-ift43-is-associated-with-intellectual-disability-skeletal-anomalies-cardiac-anomalies-and-myopia
#6
Marijn F Stokman, Machteld M Oud, Ellen van Binsbergen, Gisela G Slaats, Nayia Nicolaou, Kirsten Y Renkema, Isaac J Nijman, Ronald Roepman, Rachel H Giles, Heleen H Arts, Nine V A M Knoers, Mieke M van Haelst
We report an 11-year-old girl with mild intellectual disability, skeletal anomalies, congenital heart defect, myopia, and facial dysmorphisms including an extra incisor, cup-shaped ears, and a preauricular skin tag. Array comparative genomic hybridization analysis identified a de novo 4.5-Mb microdeletion on chromosome 14q24.2q24.3. The deleted region and phenotype partially overlap with previously reported patients. Here, we provide an overview of the literature on 14q24 microdeletions and further delineate the associated phenotype...
June 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26822151/genome-wide-association-study-and-targeted-metabolomics-identifies-sex-specific-association-of-cps1-with-coronary-artery-disease
#7
Jaana A Hartiala, W H Wilson Tang, Zeneng Wang, Amanda L Crow, Alexandre F R Stewart, Robert Roberts, Ruth McPherson, Jeanette Erdmann, Christina Willenborg, Stanley L Hazen, Hooman Allayee
Metabolites derived from dietary choline and L-carnitine, such as trimethylamine N-oxide and betaine, have recently been identified as novel risk factors for atherosclerosis in mice and humans. We sought to identify genetic factors associated with plasma betaine levels and determine their effect on risk of coronary artery disease (CAD). A two-stage genome-wide association study (GWAS) identified two significantly associated loci on chromosomes 2q34 and 5q14.1. The lead variant on 2q24 (rs715) localizes to carbamoyl-phosphate synthase 1 (CPS1), which encodes a mitochondrial enzyme that catalyses the first committed reaction and rate-limiting step in the urea cycle...
January 29, 2016: Nature Communications
https://www.readbyqxmd.com/read/26594242/recombinant-chromosome-with-partial-14-q-trisomy-due-to-maternal-pericentric-inversion
#8
Hande Küçük Kurtulgan, Leyla Özer, Malik Ejder Yıldırım, Evrim Ünsal, Süleyman Aktuna, Volkan Baltacı, Nejmiye Akkuş, İlhan Sezgin
BACKGROUND: 14q duplications caused by parental pericentric inversion of chromosome 14 are rarely reported and no clear genotype-phenotype correlation has been determined yet. CASE PRESENTATION: Here we reported a 7 years old female patient with recombinant chromosome characterized by 14 q duplication and originated from maternal pericentric inversion of chromosome 14. Principal clinical findings of the child include developmental delay, microcephaly, hypertelorism, low set ears, clinodactyly of fifth fingers, hypotonia, telecanthus and cardiac malformation...
2015: Molecular Cytogenetics
https://www.readbyqxmd.com/read/26405073/shared-genetic-basis-for-type-1-diabetes-islet-autoantibodies-and-autoantibodies-associated-with-other-immune-mediated-diseases-in-families-with-type-1-diabetes
#9
Caroline A Brorsson, Flemming Pociot
Type 1 diabetes (T1D) is a polygenic autoimmune disease that is often present with autoantibodies directed against pancreatic islet proteins. Many genetic susceptibility loci are shared with other autoimmune or immune-mediated diseases that also cosegregate in families with T1D. The aim of this study was to investigate whether susceptibility loci identified in genome-wide association studies (GWAS) of T1D were also associated with autoantibody positivity in individuals with diabetes. Fifty single nucleotide polymorphisms (SNPs) were genotyped in 6,556 multiethnic cases collected by the Type 1 Diabetes Genetics Consortium (T1DGC)...
October 2015: Diabetes Care
https://www.readbyqxmd.com/read/26090850/exonic-re-sequencing-of-the-chromosome-2q24-3-parkinson-s-disease-locus
#10
Catherine Labbé, Kotaro Ogaki, Oswaldo Lorenzo-Betancor, Minerva M Carrasquillo, Michael G Heckman, Allan McCarthy, Alexandra I Soto-Ortolaza, Ronald L Walton, Timothy Lynch, Joanna Siuda, Grzegorz Opala, Anna Krygowska-Wajs, Maria Barcikowska, Krzysztof Czyzewski, Dennis W Dickson, Ryan J Uitti, Zbigniew K Wszolek, Owen A Ross
Genome-wide association studies (GWAS) in Parkinson's disease (PD) have identified over 20 genomic regions associated with disease risk. Many of these loci include several candidate genes making it difficult to pinpoint the causal gene. The locus on chromosome 2q24.3 encompasses three genes: B3GALT1, STK39, and CERS6. In order to identify if the causal variants are simple missense changes, we sequenced all 31 exons of these three genes in 187 patients with PD. We identified 13 exonic variants including four non-synonymous and three insertion/deletion variants (indels)...
2015: PloS One
https://www.readbyqxmd.com/read/25890600/identification-of-novel-genetic-markers-of-breast-cancer-survival
#11
Qi Guo, Marjanka K Schmidt, Peter Kraft, Sander Canisius, Constance Chen, Sofia Khan, Jonathan Tyrer, Manjeet K Bolla, Qin Wang, Joe Dennis, Kyriaki Michailidou, Michael Lush, Siddhartha Kar, Jonathan Beesley, Alison M Dunning, Mitul Shah, Kamila Czene, Hatef Darabi, Mikael Eriksson, Diether Lambrechts, Caroline Weltens, Karin Leunen, Stig E Bojesen, Børge G Nordestgaard, Sune F Nielsen, Henrik Flyger, Jenny Chang-Claude, Anja Rudolph, Petra Seibold, Dieter Flesch-Janys, Carl Blomqvist, Kristiina Aittomäki, Rainer Fagerholm, Taru A Muranen, Fergus J Couch, Janet E Olson, Celine Vachon, Irene L Andrulis, Julia A Knight, Gord Glendon, Anna Marie Mulligan, Annegien Broeks, Frans B Hogervorst, Christopher A Haiman, Brian E Henderson, Fredrick Schumacher, Loic Le Marchand, John L Hopper, Helen Tsimiklis, Carmel Apicella, Melissa C Southey, Angela Cox, Simon S Cross, Malcolm W R Reed, Graham G Giles, Roger L Milne, Catriona McLean, Robert Winqvist, Katri Pylkäs, Arja Jukkola-Vuorinen, Mervi Grip, Maartje J Hooning, Antoinette Hollestelle, John W M Martens, Ans M W van den Ouweland, Federik Marme, Andreas Schneeweiss, Rongxi Yang, Barbara Burwinkel, Jonine Figueroa, Stephen J Chanock, Jolanta Lissowska, Elinor J Sawyer, Ian Tomlinson, Michael J Kerin, Nicola Miller, Hermann Brenner, Aida Karina Dieffenbach, Volker Arndt, Bernd Holleczek, Arto Mannermaa, Vesa Kataja, Veli-Matti Kosma, Jaana M Hartikainen, Jingmei Li, Judith S Brand, Keith Humphreys, Peter Devilee, Rob A E M Tollenaar, Caroline Seynaeve, Paolo Radice, Paolo Peterlongo, Bernardo Bonanni, Paolo Mariani, Peter A Fasching, Matthias W Beckmann, Alexander Hein, Arif B Ekici, Georgia Chenevix-Trench, Rosemary Balleine, Kelly-Anne Phillips, Javier Benitez, M Pilar Zamora, Jose Ignacio Arias Perez, Primitiva Menéndez, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska-Bieniek, Katarzyna Durda, Ute Hamann, Maria Kabisch, Hans Ulrich Ulmer, Thomas Rüdiger, Sara Margolin, Vessela Kristensen, Silje Nord, D Gareth Evans, Jean E Abraham, Helena M Earl, Louise Hiller, Janet A Dunn, Sarah Bowden, Christine Berg, Daniele Campa, W Ryan Diver, Susan M Gapstur, Mia M Gaudet, Susan E Hankinson, Robert N Hoover, Anika Hüsing, Rudolf Kaaks, Mitchell J Machiela, Walter Willett, Myrto Barrdahl, Federico Canzian, Suet-Feung Chin, Carlos Caldas, David J Hunter, Sara Lindstrom, Montserrat García-Closas, Per Hall, Douglas F Easton, Diana M Eccles, Nazneen Rahman, Heli Nevanlinna, Paul D P Pharoah
BACKGROUND: Survival after a diagnosis of breast cancer varies considerably between patients, and some of this variation may be because of germline genetic variation. We aimed to identify genetic markers associated with breast cancer-specific survival. METHODS: We conducted a large meta-analysis of studies in populations of European ancestry, including 37954 patients with 2900 deaths from breast cancer. Each study had been genotyped for between 200000 and 900000 single nucleotide polymorphisms (SNPs) across the genome; genotypes for nine million common variants were imputed using a common reference panel from the 1000 Genomes Project...
May 2015: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/25843248/three-patients-manifesting-early-infantile-epileptic-spasms-associated-with-2q24-3-microduplications
#12
Shinsaku Yoshitomi, Yukitoshi Takahashi, Mamiko Ishizuka, Tokito Yamaguchi, Akito Watanabe, Hirosato Nasu, Yuki Ueda, Hideyuki Ohtani, Hiroko Ikeda, Katsumi Imai, Hideo Shigematsu, Yushi Inoue, Yoshihiro Tanahashi, Kaori Aiba, Hodaka Ohta, Shino Shimada, Toshiyuki Yamamoto
BACKGROUND: Recent development of genetic analyses enabled us to reveal underlying genetic causes of the patients with epileptic encephalopathy in infancy. Mutations of voltage-gated sodium channel type I alpha subunit gene (SCN1A) are to be causally related with several phenotypes of epilepsy, generalized epilepsy with febrile seizure plus (GEFS+), Dravet syndrome, and other infantile epileptic encephalopathies. In addition to SCN1A, contiguous genes such as SCN2A and SCN3A in 2q24.3 are also reported to have contribution to epileptic seizures...
October 2015: Brain & Development
https://www.readbyqxmd.com/read/25829454/novel-association-between-immune-mediated-susceptibility-loci-and-persistent-autoantibody-positivity-in-type-1-diabetes
#13
Caroline A Brorsson, Suna Onengut, Wei-Min Chen, Janet Wenzlau, Liping Yu, Peter Baker, Alistair J K Williams, Polly J Bingley, John C Hutton, George S Eisenbarth, Patrick Concannon, Stephen S Rich, Flemming Pociot
Islet autoantibodies detected at disease onset in patients with type 1 diabetes are signs of an autoimmune destruction of the insulin-producing β-cells. To further investigate the genetic determinants of autoantibody positivity, we performed dense immune-focused genotyping on the Immunochip array and tested for association with seven disease-specific autoantibodies in a large cross-sectional cohort of 6,160 type 1 diabetes-affected siblings. The genetic association with positivity for GAD autoantibodies (GADAs), IA2 antigen (IA-2A), zinc transporter 8, thyroid peroxidase, gastric parietal cells (PCAs), tissue transglutaminase, and 21-hydroxylase was tested using a linear mixed-model regression approach to simultaneously control for population structure and family relatedness...
August 2015: Diabetes
https://www.readbyqxmd.com/read/25823687/genome-wide-association-study-of-myelosuppression-in-non-small-cell-lung-cancer-patients-with-platinum-based-chemotherapy
#14
S Cao, S Wang, H Ma, S Tang, C Sun, J Dai, C Wang, Y Shu, L Xu, R Yin, X Song, H Chen, B Han, Q Li, J Wu, C Bai, J Chen, G Jin, Z Hu, D Lu, H Shen
Platinum-induced myelosuppression severely impedes successful chemotherapy in non-small-cell lung cancer (NSCLC) patients. Hence, it is clinically important to identify the patients who are at high risk for severe toxicity to certain chemotherapy. We first carried out a genome-wide scan of 906 703 single-nucleotide polymorphisms (SNPs) to identify genetic variants associated with platinum-induced myelosuppression risk in 333 NSCLC patients with chemotherapy. Then, we replicated 24 SNPs that had P<1 × 10(-4) in another independent cohort of 876 NSCLC patients...
February 2016: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/25653716/a-novel-acquired-inv-2-p23-3q24-3-with-concurrent-submicroscopic-deletions-at-2p23-3-2p22-1-2q24-3-and-1p13-2-in-a-patient-with-chronic-thrombocytopenia-and-anemia
#15
Eigil Kjeldsen
BACKGROUND: Thrombocytopenia can result from a wide range of conditions and may be determined by multiple mechanisms. It can be due to a reduced platelet production or an increased destruction of platelets. Increased destruction is seen in conditions such as disseminated intravascular coagulation (DIC) and thrombotic microangiopathies, whereas decreased production is seen in bone marrow (BM) failure syndromes such as aplastic anemia, myelodysplastic syndromes, and chemotherapy-induced thrombocytopenia...
2015: Molecular Cytogenetics
https://www.readbyqxmd.com/read/25565925/common-somatic-alterations-identified-in-maffucci-syndrome-by-molecular-karyotyping
#16
Mustapha Amyere, Anne Dompmartin, Vinciane Wouters, Odile Enjolras, Ilkka Kaitila, Pierre-Louis Docquier, Catherine Godfraind, John Butler Mulliken, Laurence Myriam Boon, Miikka Vikkula
Maffucci syndrome (MS) is a rare congenital disorder characterized by multiple central cartilaginous tumors (enchondromas) in association with cutaneous spindle cell hemangiomas. These patients have a high incidence of malignant transformation. No familial case is known and the etiopathogenic cause remains unknown. In enchondromatosis (Ollier disease, OD), which is comprised of enchondromas only, 4 mutations in the PTHR1 gene have been identified in 4 patients; 3 were somatic and 1 was germline. No PTHR1 mutations have been detected in MS, whereas somatic IDH1 and, more rarely, IDH2 mutations have been observed in 77% of patients with MS and 81% of patients with OD...
December 2014: Molecular Syndromology
https://www.readbyqxmd.com/read/25557950/identification-of-risk-loci-for-crohn-s-disease-phenotypes-using-a-genome-wide-association-study
#17
Arnald Alonso, Eugeni Domènech, Antonio Julià, Julián Panés, Valle García-Sánchez, Pilar Nos Mateu, Ana Gutiérrez, Fernando Gomollón, Juan L Mendoza, Esther Garcia-Planella, Manuel Barreiro-de Acosta, Fernando Muñoz, Maribel Vera, Cristina Saro, Maria Esteve, Montserrat Andreu, Maria Chaparro, Josep Manyé, Eduard Cabré, María López-Lasanta, Raül Tortosa, Josep Lluís Gelpí, Andrés C García-Montero, Jaume Bertranpetit, Devin Absher, Richard M Myers, Sara Marsal, Javier P Gisbert
BACKGROUND & AIMS: Crohn's disease is a highly heterogeneous inflammatory bowel disease comprising multiple clinical phenotypes. Genome-wide association studies (GWASs) have associated a large number of loci with disease risk but have not associated any specific genetic variants with clinical phenotypes. We performed a GWAS of clinical phenotypes in Crohn's disease. METHODS: We genotyped 576,818 single-nucleotide polymorphisms in a well-characterized cohort of 1090 Crohn's disease patients of European ancestry...
April 2015: Gastroenterology
https://www.readbyqxmd.com/read/25525853/upregulated-genes-at-2q24-gains-as-candidate-oncogenes-in-hepatoblastomas
#18
Tatiane Cristina Rodrigues, Felipe Fidalgo, Cecilia Maria Lima da Costa, Elisa Napolitano Ferreira, Isabela Werneck da Cunha, Dirce Maria Carraro, Ana Cristina Victorino Krepischi, Carla Rosenberg
AIM: Cytogenetic data of hepatoblastomas, a rare embryonal tumor of the liver, mostly consist of descriptions of whole-chromosome aneuploidies and large chromosome alterations. High-resolution cytogenetics may provide clues to hepatoblastoma tumorigenesis and indicate markers with clinical significance. PATIENTS & METHODS: We used array-CGH (180K) to screen for genomic imbalances in nine hepatoblastomas. Additionally, we investigated the expression pattern of selected genes exhibiting copy number changes...
December 2014: Future Oncology
https://www.readbyqxmd.com/read/25524840/epilepsy-phenotype-associated-with-a-chromosome-2q24-3-deletion-involving-scn1a-migrating-partial-seizures-of-infancy-or-atypical-dravet-syndrome
#19
Byung Chan Lim, Hee Hwang, Hunmin Kim, Jong-Hee Chae, Jieun Choi, Ki Joong Kim, Yong Seung Hwang, Mi-Sun Yum, Tae-Sung Ko
The deletion of a sodium channel gene cluster located on chromosome 2q24.3 is associated with variable epilepsy phenotypes, including Dravet syndrome and migrating partial seizures of infancy. Although SCN1A is considered as the major contributor to the epilepsy phenotype, the role of other sodium channel genes that map within this cluster has not been delineated. We presented five new cases with a chromosome 2q24.3 deletion involving SCN1A and investigated their epilepsy phenotype in relation to the extent of the deletion...
January 2015: Epilepsy Research
https://www.readbyqxmd.com/read/25497044/molecular-characterization-of-a-cohort-of-73-patients-with-infantile-spasms-syndrome
#20
Nadia Boutry-Kryza, Audrey Labalme, Dorothee Ville, Julitta de Bellescize, Renaud Touraine, Fabienne Prieur, Sarra Dimassi, Anne-Lise Poulat, Marianne Till, Massimiliano Rossi, Emilie Bourel-Ponchel, Aline Delignières, Anne-Gaelle Le Moing, Clotilde Rivier, Vincent des Portes, Patrick Edery, Alain Calender, Damien Sanlaville, Gaetan Lesca
Infantile Spasms syndrome (ISs) is a characterized by epileptic spasms occurring in clusters with an onset in the first year of life. West syndrome represents a subset of ISs that associates spasms in clusters, a hypsarrhythmia EEG pattern and a developmental arrest or regression. Aetiology of ISs is widely heterogeneous including many genetic causes. Many patients, however, remain without etiological diagnosis, which is critical for prognostic purpose and genetic counselling. In the present study, we performed genetic screening of 73 patients with different types of ISs by array-CGH and molecular analysis of 5 genes: CDKL5, STXBP1, KCNQ2, and GRIN2A, whose mutations cause different types of epileptic encephalopathies, including ISs, as well as MAGI2, which was suggested to be related to a subset of ISs...
February 2015: European Journal of Medical Genetics
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