DOCSLIB.ORG

7Q35q36.3 Deletion and Concomitant 20Q13.2Q13.33 Duplication in a Newborn: Familiar Case

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
7Q35q36.3 Deletion and Concomitant 20Q13.2Q13.33 Duplication in a Newborn: Familiar Case 7q35q36.3 Deletion and Concomitant 20q13.2q13.33 Duplication in a Newborn: Familiar Case Domenico Dell'Edera ( [email protected] ) Cytogenetic and Molecular Genetics Unit, "Madonna delle Grazie" Hospital - 75100 Matera, Italy Arianna Allegretti unit of cytogenetics and molecular genetics, Madonna delle Grazie Hospital, Matera, Italy Rosalba, Ardea Dell'Edera Universitatea de Vest Vasile Goldis din Arad Facultatea de Medicină: Universitatea de Vest Vasile Goldis din Arad Facultatea de Medicina Maria Teresa Dell'Edera Universitatea de Vest Vasile Goldis din Arad Facultatea de Medicină: Universitatea de Vest Vasile Goldis din Arad Facultatea de Medicina Annunziata Anna Epifania unit of cytogenetics and molecular genetics, Madonna delle Grazie Hospital, Matera, Italy Ludovica Mercuri Department of Biology, University of Bari, Italy Angela Mitidieri unit of cytogenetics and molecular genetics, Madonna delle Grazie Hospital, Matera, Italy Francesca Simone unit of cytogenetics and molecular genetics, Madonna delle Grazie Hospital, Matera, Italy Mario Ventura Department of Biology, University of Bari, Bari, Italy Case Report Keywords: 7q microdeletion, 20q microduplication, Comparative genomic hybridization, reciprocal translocation, long QT syndrome Posted Date: September 8th, 2020 DOI: https://doi.org/10.21203/rs.3.rs-67595/v1 License: This work is licensed under a Creative Commons Attribution 4.0 International License. Read Full License Page 1/17 Abstract Array-CGH is a powerful tool in identifying and characterizing complex genomic rearrangements when classical cytogenetics approaches are not sensible enough in detecting rearrangements smaller than 5-10 Mb. The use of Array-CGH has increased the detection rate of unbalanced cryptic rearrangements such as deletions and/or duplications of 10-20% We present here the rst report of a patient with 7q35q36.3 microdeletion and concomitant 20q13.2q13.33 microduplication detected by array-CGH and conrmed by reiterative FISH experiments associated with dysmorphism, delayed development, Long QT syndrome (LQTS), complex congenital heart disease, pulmonary hypertension, hypotonia, respiratory distress, cognitive decit. We proved that this unbalanced rearrangement was due to an adjacent-1 segregation inherited by the mother carrier of a balanced translocation between chromosomes 7 and 20. Introduction Reciprocal translocations are commonly balanced exchanges between homologous chromosomes usually associated in carriers with normal phenotype. Heterozygous carriers of translocations can result in abnormal meiosis, thus resulting in an increase rate of miscarriage1. The pregnancy lost is related to meiotic segregation since the meiosis in heterozygous for translocation may generate gametes with unbalanced rearrangements such as duplications and deletions. Unbalanced chromosomal rearrangements can be studied by Comparative Genomic Hybridization (array- CGH) that is able to identify at high resolution (5-10 Mb) the genetics causes of complex phenotypes usually only partially detectable (9.5%) by classical cytogenetics2-5. When the CGH array was not discovered these genomic alterations were called "idiopathic syndromes". Moreover, array-CGH is a technique faster than uorescence in situ hybridization in detecting in one experiment, chromosomal unbalanced rearrangements without a priori knowledge. On the other hand, array-CGH has a relevant limitation in detecting balanced rearrangements where instead classical and molecular cytogenetics (Fluorescence in situ hybridization) are used as still elective strategies. Here, we present the rst report of a patient with 7q35q36.3 deletion and 20q13.2q13.33 duplication detected by array-CGH and deeply studied by reiterative FISH experiments, and associated with dysmorphism, delayed development, Long QT syndrome (LQTS), complex congenital heart disease, pulmonary hypertension, hypotonia, respiratory distress and cognitive decit. The unbalanced rearrangements resulted as adjacent 1 segregation of the balanced translocation (7q;20q) carried by the mother of the patient. We detected the translocation in the mother and characterized by FISH an unbalanced rearrangement involving the same chromosomes in the mother’s brother of the patient (D.A.), thus showing traces of the presence of the translocation in the grandparent’s patient. Page 2/17 Clinical Report The subject of this study is a girl (D.A.) six months old (Figure 1: family tree III4). The mother (L.M.) reported four pregnancies two of which terminated in the rst trimester as abortion, one gave birth D.M. (Figure 1: family tree III3) and from the last pregnancy was born D.A. (index case). In addition, L.M. reported to have a 27-year-old brother L.F. (Figure 1: family tree II3) who, at the age of ten, was diagnosed with a suspicion of Dandy Walker syndrome Rubinstein Taybi syndrome by two different groups of clinicians. These syndromes have never been conrmed through the use of biomolecular investigations. L.M. prenatal history showed no evidence of teratogen exposure or any other relevant exposures or pathologies. Ultrasound reports during weeks 14 and 25 of gestation showed no morphological alterations. The delivery was natural, and the baby born at term (39 weeks and six days) with a weight of 2230 grams. She showed APGAR indices of 6, 7 and 8 at one minute, ve and ten minutes respectively after birth. D.A. was transferred to the Neonatal Intensive Care Unit (NICU) due to the low weight (<2500 grams) and the presence of dismorphic elements (microcephaly, ears and cup, hypotelorism, squat and short neck, clenched hands with overlapping ngers, active and passive hypertonus of the limbs, absent cry, posture with extended lower limbs and tense and abducted upper limbs). Furthermore, she showed tense and not very palpable abdomen, the heart rate at 140 beats/minute, respiratory rate at 45 acts/minute and blood pressure at 53/43 mmHg. Blood tests showed an increase in transaminases (GOT: 537 IU/L, GPT: 247 IU/L), leukocytes (36970 cells/uL), creatininemia (1.8 mg/dL), Reactive Protein C (8,9 mg/dL), creatinkinase (CK or CPK: 217 IU/L), creatine kinase MB (CK-MB: 42.9 IU/L) and a decrease in sodium levels (125 mmol/L). In addition, the newborn girl had been subjected to antibiotic therapy due to Escherichia coli detection on blood culture and pharyngeal swab. Upon entering UTIN, continuous monitoring of tissue oxygenation (kidney and brain) was detected through the Near-Infrared Spectroscopy (NIRS), while brain electrical activity was monitored through the use of Cerebral Function Monitoring (CFM). Given the diculty in breathing highlighted since birth, the Nasal Continuous Positive Airway Pressure (nCPAP) was applied to the small D.A. Echocardiography showed: situs solitus, levocardia; atrial septal defect (DIA) near the superior vena cava (high caval), moderate tricuspid insuciency which indicates a high blood pressure (PAPs about 80mmHg); normal- sized left heart chambers; preserved biventricular kinesis; pulmonary artery of normal caliber and with normoconuent branches; patent arterial duct with moderate bidirectional shunt; aortic arch and aortic isthmus of normal caliber and owmetry; normopulsing abdominal aorta; absence of pericardial effusion. To treat pulmonary hypertension, the following therapy has been implemented: Dobutamine and Milrinone with continuous infusion. In seventh day of life given the persistence of high lung pressure associated with an unconvincing radiographic picture, the little D.A. was intubated and treatment with High Frequency Oscillation (HFO) Page 3/17 with nitric oxide (No) was started. At the following echocardiographic control there was a sharp drop in lung resistance (right ventricle pressure: 25 mmHg) and the presence of two muscle interventricular defects apical (DIV). The nitric oxide dosage was reduced and suspended after about 24 hours, followed by suspension of Milrinone after a few days. On this occasion, a bronchoalveolar lavage was performed which resulted negative for Clamidya, Ureoplasma and Mycoplasma. On the tenth day of life, an electrocardiogram (ECG) was performed detecting: presence of a QTc (QT corrected according to the frequency) lengthened by 480 msec in V5 (normal values: 350-440 msec). For this reason, D.A. started therapy with propanolol hydrochloride (beta blocker) initially at a dosage of 1mg/Kg/die and then reached a dose of 7mg/Kg/die in three administrations for the persistence of the extended QTc (values between 440 and 490 msec). In addition, the ECG detected the presence of ventricular pre-excitation (delta wave at the beginning of the QRS complex). The abdominal ultrasound showed: liver of dimensions within the limits of norm without appreciable ecostructural alterations. Gallbladder with endoluminal biliary mud and moderate concentric thickening of the walls. Hint of ectasia of the intrahepatic biliary tract. Pancreas not explorable. Spleen within normal limits. Kidneys in size within the limits with regular eco-structure. The magnetic resonance imaging (MRI) of the brain showed: semibrachycephalic caput. The corpus callosum was thin and incomplete, with reduced thickness of the splenium and not recognizable rostrum; a moderately squared aspect of the posterior sectors of the lateral ventricles was associated. Mild hypoplasia of the cerebellar worm and consensual megacisterna magna. No signicant signal alterations of the nerve tissue, regular progression of myelination. Substantially regular the volume of the ventricular system.
Load more

Recommended publications
  • Análise Integrativa De Perfis Transcricionais De Pacientes Com
    UNIVERSIDADE DE SÃO PAULO FACULDADE DE MEDICINA DE RIBEIRÃO PRETO PROGRAMA DE PÓS-GRADUAÇÃO EM GENÉTICA ADRIANE FEIJÓ EVANGELISTA Análise integrativa de perfis transcricionais de pacientes com diabetes mellitus tipo 1, tipo 2 e gestacional, comparando-os com manifestações demográficas, clínicas, laboratoriais, fisiopatológicas e terapêuticas Ribeirão Preto – 2012 ADRIANE FEIJÓ EVANGELISTA Análise integrativa de perfis transcricionais de pacientes com diabetes mellitus tipo 1, tipo 2 e gestacional, comparando-os com manifestações demográficas, clínicas, laboratoriais, fisiopatológicas e terapêuticas Tese apresentada à Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo para obtenção do título de Doutor em Ciências. Área de Concentração: Genética Orientador: Prof. Dr. Eduardo Antonio Donadi Co-orientador: Prof. Dr. Geraldo A. S. Passos Ribeirão Preto – 2012 AUTORIZO A REPRODUÇÃO E DIVULGAÇÃO TOTAL OU PARCIAL DESTE TRABALHO, POR QUALQUER MEIO CONVENCIONAL OU ELETRÔNICO, PARA FINS DE ESTUDO E PESQUISA, DESDE QUE CITADA A FONTE. FICHA CATALOGRÁFICA Evangelista, Adriane Feijó Análise integrativa de perfis transcricionais de pacientes com diabetes mellitus tipo 1, tipo 2 e gestacional, comparando-os com manifestações demográficas, clínicas, laboratoriais, fisiopatológicas e terapêuticas. Ribeirão Preto, 2012 192p. Tese de Doutorado apresentada à Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo. Área de Concentração: Genética. Orientador: Donadi, Eduardo Antonio Co-orientador: Passos, Geraldo A. 1. Expressão gênica – microarrays 2. Análise bioinformática por module maps 3. Diabetes mellitus tipo 1 4. Diabetes mellitus tipo 2 5. Diabetes mellitus gestacional FOLHA DE APROVAÇÃO ADRIANE FEIJÓ EVANGELISTA Análise integrativa de perfis transcricionais de pacientes com diabetes mellitus tipo 1, tipo 2 e gestacional, comparando-os com manifestações demográficas, clínicas, laboratoriais, fisiopatológicas e terapêuticas.
    [Show full text]
  • Whole-Exome Sequencing and Its Impact in Hereditary Hearing Loss
    Genet. Res., Camb. (2015), vol. 97, e4. © Cambridge University Press 2015 1 doi:10.1017/S001667231500004X Whole-exome sequencing and its impact in hereditary hearing loss 1,2 1 1 1 TAHIR ATIK , GUNEY BADEMCI , OSCAR DIAZ-HORTA , SUSAN H. BLANTON AND MUSTAFA TEKIN1* 1Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, USA 2Division of Genetics, Department of Pediatrics, Ege University School of Medicine, Izmir, Turkey (Received 30 December 2014; revised 12 February 2015; accepted 13 February 2015) Summary Next-generation sequencing (NGS) technologies have played a central role in the genetic revolution. These technologies, especially whole-exome sequencing, have become the primary tool of geneticists to identify the causative DNA variants in Mendelian disorders, including hereditary deafness. Current research estimates that 1% of all human genes have a function in hearing. To date, mutations in over 80 genes have been reported to cause nonsyndromic hearing loss (NSHL). Strikingly, more than a quarter of all known genes re- lated to NSHL were discovered in the past 5 years via NGS technologies. In this article, we review recent developments in the usage of NGS for hereditary deafness, with an emphasis on whole-exome sequencing. 1. Introduction over the past 10 years. This revolutionary sequencing DNA sequencing has been one of the most important technique is capable of sequencing millions of small frag- techniques in medical research and genetic diagnostics ments covering the whole genome or large regions of since chain termination sequencing was first described interest, such as the entire coding portion of the genome 38 years ago (Sanger et al., 1977).
    [Show full text]
  • The DNA Sequence and Comparative Analysis of Human Chromosome 20
    articles The DNA sequence and comparative analysis of human chromosome 20 P. Deloukas, L. H. Matthews, J. Ashurst, J. Burton, J. G. R. Gilbert, M. Jones, G. Stavrides, J. P. Almeida, A. K. Babbage, C. L. Bagguley, J. Bailey, K. F. Barlow, K. N. Bates, L. M. Beard, D. M. Beare, O. P. Beasley, C. P. Bird, S. E. Blakey, A. M. Bridgeman, A. J. Brown, D. Buck, W. Burrill, A. P. Butler, C. Carder, N. P. Carter, J. C. Chapman, M. Clamp, G. Clark, L. N. Clark, S. Y. Clark, C. M. Clee, S. Clegg, V. E. Cobley, R. E. Collier, R. Connor, N. R. Corby, A. Coulson, G. J. Coville, R. Deadman, P. Dhami, M. Dunn, A. G. Ellington, J. A. Frankland, A. Fraser, L. French, P. Garner, D. V. Grafham, C. Grif®ths, M. N. D. Grif®ths, R. Gwilliam, R. E. Hall, S. Hammond, J. L. Harley, P. D. Heath, S. Ho, J. L. Holden, P. J. Howden, E. Huckle, A. R. Hunt, S. E. Hunt, K. Jekosch, C. M. Johnson, D. Johnson, M. P. Kay, A. M. Kimberley, A. King, A. Knights, G. K. Laird, S. Lawlor, M. H. Lehvaslaiho, M. Leversha, C. Lloyd, D. M. Lloyd, J. D. Lovell, V. L. Marsh, S. L. Martin, L. J. McConnachie, K. McLay, A. A. McMurray, S. Milne, D. Mistry, M. J. F. Moore, J. C. Mullikin, T. Nickerson, K. Oliver, A. Parker, R. Patel, T. A. V. Pearce, A. I. Peck, B. J. C. T. Phillimore, S. R. Prathalingam, R. W. Plumb, H. Ramsay, C. M.
    [Show full text]
  • A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family
    G C A T T A C G G C A T genes Article A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family María Lachgar 1,2,† , Matías Morín 1,2,† , Manuela Villamar 1,2, Ignacio del Castillo 1,2 and Miguel Ángel Moreno-Pelayo 1,2,* 1 Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, Carretera de Colmenar km 9.100, 28034 Madrid, Spain; [email protected] (M.L.); [email protected] (M.M.); [email protected] (M.V.); [email protected] (I.d.C.) 2 Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28034 Madrid, Spain * Correspondence: [email protected] † These authors have contributed equally to this work. Abstract: Nonsyndromic hereditary hearing loss is a common sensory defect in humans that is clinically and genetically highly heterogeneous. So far, 122 genes have been associated with this disorder and 50 of them have been linked to autosomal dominant (DFNA) forms like DFNA68, a rare subtype of hearing impairment caused by disruption of a stereociliary scaffolding protein (HOMER2) that is essential for normal hearing in humans and mice. In this study, we report a novel HOMER2 variant (c.832_836delCCTCA) identified in a Spanish family by using a custom NGS targeted gene panel (OTO-NGS-v2). This frameshift mutation produces a premature stop codon that may lead in the absence of NMD to a shorter variant (p.Pro278Alafs*10) that truncates HOMER2 at the CDC42 binding domain (CBD) of the coiled-coil structure, a region that is essential Citation: Lachgar, M.; Morín, M.; for protein multimerization and HOMER2-CDC42 interaction.
    [Show full text]
  • WO 2016/040794 Al 17 March 2016 (17.03.2016) P O P C T
    (12) INTERNATIONAL APPLICATION PUBLISHED UNDER THE PATENT COOPERATION TREATY (PCT) (19) World Intellectual Property Organization International Bureau (10) International Publication Number (43) International Publication Date WO 2016/040794 Al 17 March 2016 (17.03.2016) P O P C T (51) International Patent Classification: AO, AT, AU, AZ, BA, BB, BG, BH, BN, BR, BW, BY, C12N 1/19 (2006.01) C12Q 1/02 (2006.01) BZ, CA, CH, CL, CN, CO, CR, CU, CZ, DE, DK, DM, C12N 15/81 (2006.01) C07K 14/47 (2006.01) DO, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, HN, HR, HU, ID, IL, IN, IR, IS, JP, KE, KG, KN, KP, KR, (21) International Application Number: KZ, LA, LC, LK, LR, LS, LU, LY, MA, MD, ME, MG, PCT/US20 15/049674 MK, MN, MW, MX, MY, MZ, NA, NG, NI, NO, NZ, OM, (22) International Filing Date: PA, PE, PG, PH, PL, PT, QA, RO, RS, RU, RW, SA, SC, 11 September 2015 ( 11.09.201 5) SD, SE, SG, SK, SL, SM, ST, SV, SY, TH, TJ, TM, TN, TR, TT, TZ, UA, UG, US, UZ, VC, VN, ZA, ZM, ZW. (25) Filing Language: English (84) Designated States (unless otherwise indicated, for every (26) Publication Language: English kind of regional protection available): ARIPO (BW, GH, (30) Priority Data: GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, ST, SZ, 62/050,045 12 September 2014 (12.09.2014) US TZ, UG, ZM, ZW), Eurasian (AM, AZ, BY, KG, KZ, RU, TJ, TM), European (AL, AT, BE, BG, CH, CY, CZ, DE, (71) Applicant: WHITEHEAD INSTITUTE FOR BIOMED¬ DK, EE, ES, FI, FR, GB, GR, HR, HU, IE, IS, IT, LT, LU, ICAL RESEARCH [US/US]; Nine Cambridge Center, LV, MC, MK, MT, NL, NO, PL, PT, RO, RS, SE, SI, SK, Cambridge, Massachusetts 02142-1479 (US).
    [Show full text]
  • Variation in Protein Coding Genes Identifies Information Flow
    bioRxiv preprint doi: https://doi.org/10.1101/679456; this version posted June 21, 2019. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under aCC-BY-NC-ND 4.0 International license. Animal complexity and information flow 1 1 2 3 4 5 Variation in protein coding genes identifies information flow as a contributor to 6 animal complexity 7 8 Jack Dean, Daniela Lopes Cardoso and Colin Sharpe* 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 Institute of Biological and Biomedical Sciences 25 School of Biological Science 26 University of Portsmouth, 27 Portsmouth, UK 28 PO16 7YH 29 30 * Author for correspondence 31 [email protected] 32 33 Orcid numbers: 34 DLC: 0000-0003-2683-1745 35 CS: 0000-0002-5022-0840 36 37 38 39 40 41 42 43 44 45 46 47 48 49 Abstract bioRxiv preprint doi: https://doi.org/10.1101/679456; this version posted June 21, 2019. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under aCC-BY-NC-ND 4.0 International license. Animal complexity and information flow 2 1 Across the metazoans there is a trend towards greater organismal complexity. How 2 complexity is generated, however, is uncertain. Since C.elegans and humans have 3 approximately the same number of genes, the explanation will depend on how genes are 4 used, rather than their absolute number.
    [Show full text]
  • Network-Based Method for Drug Target Discovery at the Isoform Level
    www.nature.com/scientificreports OPEN Network-based method for drug target discovery at the isoform level Received: 20 November 2018 Jun Ma1,2, Jenny Wang2, Laleh Soltan Ghoraie2, Xin Men3, Linna Liu4 & Penggao Dai 1 Accepted: 6 September 2019 Identifcation of primary targets associated with phenotypes can facilitate exploration of the underlying Published: xx xx xxxx molecular mechanisms of compounds and optimization of the structures of promising drugs. However, the literature reports limited efort to identify the target major isoform of a single known target gene. The majority of genes generate multiple transcripts that are translated into proteins that may carry out distinct and even opposing biological functions through alternative splicing. In addition, isoform expression is dynamic and varies depending on the developmental stage and cell type. To identify target major isoforms, we integrated a breast cancer type-specifc isoform coexpression network with gene perturbation signatures in the MCF7 cell line in the Connectivity Map database using the ‘shortest path’ drug target prioritization method. We used a leukemia cancer network and diferential expression data for drugs in the HL-60 cell line to test the robustness of the detection algorithm for target major isoforms. We further analyzed the properties of target major isoforms for each multi-isoform gene using pharmacogenomic datasets, proteomic data and the principal isoforms defned by the APPRIS and STRING datasets. Then, we tested our predictions for the most promising target major protein isoforms of DNMT1, MGEA5 and P4HB4 based on expression data and topological features in the coexpression network. Interestingly, these isoforms are not annotated as principal isoforms in APPRIS.
    [Show full text]
  • The Genetic Basis of Hearing Loss: Recent Advances and Future Prospects 1Anita Jeyakumar, 2Jennifer Lentz
    IJHNS Anita Jeyakumar, Jennifer Lentz 10.5005/jp-journals-10001-1267 REVIEW ARTICLE The Genetic Basis of Hearing Loss: Recent Advances and Future Prospects 1Anita Jeyakumar, 2Jennifer Lentz ABSTRACT not all HL presents at birth, hearing screening is also Hearing loss (HL) is a common and complex condition that can recommended throughout childhood and adolescence occur at any age, be inherited or acquired, and is associated with a to identify children with later onset HL and allow for wide number of etiologies. HL is the most common sensory deficit early intervention. in newborn children. In developed countries, genetic causes are Approximately 95% of newborns with HL identified considered the most frequent etiology of HL, and are estimated to by newborn hearing screening are born to hearing account for 75% of the causes of HL. Current estimates suggest 3 1% of human genes (200–250 genes) are associated with genetic parents. Analysis of historic data from school age HL, and to date, more than 80 genes with over 1000 mutations children in the United States estimates that up to 60% and 140 loci have been identified associated with non-syndromic of educationally significant congenital HL is caused by HL. The Online Mendelian Inheritance in Man reports more than genetic factors.4 400 syndromes with HL. Syndromic and non-syndromic HL can be caused by different mutations within the same gene. Establishing the genetic cause of HL in prelingual children facilitates the CLASSIFICATION OF HL medical course of action, rehabilitation choices and long term Hearing loss can be classified and described in many care in children.
    [Show full text]
  • Table S1. 103 Ferroptosis-Related Genes Retrieved from the Genecards
    Table S1. 103 ferroptosis-related genes retrieved from the GeneCards. Gene Symbol Description Category GPX4 Glutathione Peroxidase 4 Protein Coding AIFM2 Apoptosis Inducing Factor Mitochondria Associated 2 Protein Coding TP53 Tumor Protein P53 Protein Coding ACSL4 Acyl-CoA Synthetase Long Chain Family Member 4 Protein Coding SLC7A11 Solute Carrier Family 7 Member 11 Protein Coding VDAC2 Voltage Dependent Anion Channel 2 Protein Coding VDAC3 Voltage Dependent Anion Channel 3 Protein Coding ATG5 Autophagy Related 5 Protein Coding ATG7 Autophagy Related 7 Protein Coding NCOA4 Nuclear Receptor Coactivator 4 Protein Coding HMOX1 Heme Oxygenase 1 Protein Coding SLC3A2 Solute Carrier Family 3 Member 2 Protein Coding ALOX15 Arachidonate 15-Lipoxygenase Protein Coding BECN1 Beclin 1 Protein Coding PRKAA1 Protein Kinase AMP-Activated Catalytic Subunit Alpha 1 Protein Coding SAT1 Spermidine/Spermine N1-Acetyltransferase 1 Protein Coding NF2 Neurofibromin 2 Protein Coding YAP1 Yes1 Associated Transcriptional Regulator Protein Coding FTH1 Ferritin Heavy Chain 1 Protein Coding TF Transferrin Protein Coding TFRC Transferrin Receptor Protein Coding FTL Ferritin Light Chain Protein Coding CYBB Cytochrome B-245 Beta Chain Protein Coding GSS Glutathione Synthetase Protein Coding CP Ceruloplasmin Protein Coding PRNP Prion Protein Protein Coding SLC11A2 Solute Carrier Family 11 Member 2 Protein Coding SLC40A1 Solute Carrier Family 40 Member 1 Protein Coding STEAP3 STEAP3 Metalloreductase Protein Coding ACSL1 Acyl-CoA Synthetase Long Chain Family Member 1 Protein
    [Show full text]
  • Transcriptomic Response to Parasite Infection in Nile Tilapia
    Ellison et al. BMC Genomics (2018) 19:723 https://doi.org/10.1186/s12864-018-5098-7 RESEARCH ARTICLE Open Access Transcriptomic response to parasite infection in Nile tilapia (Oreochromis niloticus) depends on rearing density Amy R Ellison1* , Tamsyn M Uren Webster2, Olivier Rey2,3, Carlos Garcia de Leaniz2, Sofia Consuegra2, Pablo Orozco-terWengel1 and Jo Cable1 Abstract Background: Captive animal populations, be it for food production or conservation programmes, are often maintained at densities far beyond those in natural environments, which can have profound effects on behaviour, immune and stress levels, and ultimately welfare. How such alterations impact transcriptional responses to pathogen infection is a ‘different kettle of fish’ and remains poorly understood. Here, we assessed survival and gene expression profiles of infected fish reared at two different densities to elucidate potential functional genomic mechanisms for density-related differences in disease susceptibility. Results: Utilising a whole-transcriptome sequencing (RNAseq) approach, we demonstrate that rearing density in tilapia (Oreochromis niloticus) significantly impacts susceptibility to the oomycete Saprolegnia parasitica, via altered transcriptional infection responses. Tilapia held at low densities have increased expression of genes related to stress, likely due to increased aggressive interactions. When challenged with Saprolegnia, low-density fish exhibit altered expression of inflammatory gene responses and enhanced levels of adaptive immune gene suppression compared to fish reared at higher density, resulting in significantly increased mortality rates. In addition, Saprolegnia infection substantially perturbs expression of circadian clock genes, with fish reared at low-density having higher levels of molecular clock dysregulation. Conclusions: Our results reveal the wide-scale impact of stocking density on transcriptional responses to infection and highlight the need to incorporate circadian biology into our understanding of disease dynamics in managed animals.
    [Show full text]
  • 7Q35q36.3 Deletion and Concomitant 20Q13.2Q13.33 Duplication in a Newborn: Familiar Case
    European Review for Medical and Pharmacological Sciences 2021; 25: 2949-2957 7q35q36.3 deletion and concomitant 20q13.2q13.33 duplication in a newborn: familiar case D. DELL’EDERA1, A. ALLEGRETTI1, F. FORTE2, R.A. DELL’EDERA3, M.T. DELL’EDERA3, A.A. EPIFANIA1, L. MERCURI4, C.R. CATACCHIO4, A. MITIDIERI1, F. SIMONE1, M. VENTURA4 1Unit of Medical Genetics, “Madonna delle Grazie” Hospital, Matera, Italy 2Pediatric Unit, “Madonna delle Grazie” Hospital, Matera, Italy 3Universitatea de Vest Vasile Goldis din Arad Facultatea de Medicină: Universitatea de Vest Vasile Goldis din Arad Facultatea de Medicina, Arad, Romania 4Department of Biology, University “Aldo Moro”, Bari, Italy Key Words: Abstract. – OBJECTIVE: Array-CGH is a pow- erful tool in identifying and characterizing com- 7q microdeletion, 20q microduplication, Array plex genomic rearrangements smaller than 5-10 comparative genomic hybridization (array-CGH), Bac- megabase (Mb), for which classical cytogenetic terial artificial chromosome (BAC), Reciprocal translo- approaches are not sensitive enough. The use cation, Long QT syndrome. of Array-CGH has increased of 10-20% the de- tection rate of unbalanced cryptic rearrange- ments, such as deletions and/or duplications. PATIENTS AND METHODS: We present here Introduction the first report of a patient with 7q35q36.3 mi- crodeletion and concomitant 20q13.2q13.33 mi- Reciprocal translocations are commonly bal- croduplication detected by array-CGH and con- anced exchanges between non-homologous chro- firmed by reiterative FISH experiments associat- mosomes usually associated with normal pheno- ed with dysmorphism, development delay, Long type. QT syndrome (LQTS), complex congenital heart disease, pulmonary hypertension, hypotonia, Heterozygous carriers of translocations can respiratory distress, cognitive deficit.
    [Show full text]
  • 1471-2164-9-379.Pdf
    BMC Genomics BioMed Central Research article Open Access Comparison of the Agilent, ROMA/NimbleGen and Illumina platforms for classification of copy number alterations in human breast tumors LO Baumbusch*1,2,3, J Aarøe1,4, FE Johansen1, J Hicks5, H Sun6, L Bruhn6, K Gunderson7, B Naume8, VN Kristensen1,4, K Liestøl3,9, A-L Børresen-Dale1,4 and OC Lingjærde3,9 Address: 1Department of Genetics, Institute for Cancer Research, Norwegian Radium Hospital, Rikshospitalet University Hospital, 0310 Oslo, Norway, 2Department of Pathology, Norwegian Radium Hospital, Rikshospitalet University Hospital, 0310 Oslo, Norway, 3Biomedical Research Group, Department of Informatics, University of Oslo, P.O. Box 1080 Blindern, 0316 Oslo, Norway, 4Faculty Division The Norwegian Radium Hospital, University of Oslo, Oslo, Norway, 5Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA, 6Agilent Technologies, Inc., 5301 Stevens Creek Blvd, Santa Clara, CA 95052, USA, 7Illumina, Inc., 9885 Towne Centre Drive, San Diego, CA 92121, USA, 8Department of Oncology, Norwegian Radium Hospital, Rikshospitalet University Hospital, 0310 Oslo, Norway and 9Centre for Cancer Biomedicine, University of Oslo, Oslo, Norway Email: LO Baumbusch* - [email protected]; J Aarøe - [email protected]; FE Johansen - Fredrik.Ekeberg.Johansen@rr- research.no; J Hicks - [email protected]; H Sun - [email protected]; L Bruhn - [email protected]; K Gunderson - [email protected]; B Naume - [email protected]; VN Kristensen - [email protected]; K Liestøl - [email protected]; A-L Børresen-Dale - [email protected]; OC Lingjærde - [email protected] * Corresponding author Published: 8 August 2008 Received: 3 December 2007 Accepted: 8 August 2008 BMC Genomics 2008, 9:379 doi:10.1186/1471-2164-9-379 This article is available from: http://www.biomedcentral.com/1471-2164/9/379 © 2008 Baumbusch et al; licensee BioMed Central Ltd.
    [Show full text]