Literature DB >> 28947054

Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions.

Hengameh Zahed1, Teresa N Sparks2, Ben Li2, Adnan Alsadah1, Joseph T C Shieh3.   

Abstract

We present cases of 3 children diagnosed with the same genetic condition, Gitelman syndrome, at different stages using various genetic methods: panel testing, targeted single gene sequencing, and exome sequencing. We discuss the advantages and disadvantages of each method and review the potential of genomic sequencing for early disease detection.
Copyright © 2017 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  exome sequencing; gene panels; secondary findings

Mesh：

Year:  2017        PMID： 28947054      PMCID： PMC6037534          DOI： 10.1016/j.jpeds.2017.06.040

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  52 in total

1.  A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.

Authors:  Kornelia Neveling; Ilse Feenstra; Christian Gilissen; Lies H Hoefsloot; Erik-Jan Kamsteeg; Arjen R Mensenkamp; Richard J T Rodenburg; Helger G Yntema; Liesbeth Spruijt; Sascha Vermeer; Tuula Rinne; Koen L van Gassen; Danielle Bodmer; Dorien Lugtenberg; Rick de Reuver; Wendy Buijsman; Ronny C Derks; Nienke Wieskamp; Bert van den Heuvel; Marjolijn J L Ligtenberg; Hannie Kremer; David A Koolen; Bart P C van de Warrenburg; Frans P M Cremers; Carlo L M Marcelis; Jan A M Smeitink; Saskia B Wortmann; Wendy A G van Zelst-Stams; Joris A Veltman; Han G Brunner; Hans Scheffer; Marcel R Nelen
Journal:  Hum Mutat       Date:  2013-10-18       Impact factor: 4.878

Review 2.  Disclosure of incidental findings from next-generation sequencing in pediatric genomic research.

Authors:  Ruqayyah Abdul-Karim; Benjamin E Berkman; David Wendler; Annette Rid; Javed Khan; Tom Badgett; Sara Chandros Hull
Journal:  Pediatrics       Date:  2013-02-11       Impact factor: 7.124

3.  GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia.

Authors:  Zheng Fan; Robert Greenwood; Ana C G Felix; Yael Shiloh-Malawsky; Michael Tennison; Myra Roche; Kristy Crooks; Karen Weck; Kirk Wilhelmsen; Jonathan Berg; James Evans
Journal:  J Neurol       Date:  2014-02-08       Impact factor: 4.849

Review 4.  Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Authors:  David T Miller; Margaret P Adam; Swaroop Aradhya; Leslie G Biesecker; Arthur R Brothman; Nigel P Carter; Deanna M Church; John A Crolla; Evan E Eichler; Charles J Epstein; W Andrew Faucett; Lars Feuk; Jan M Friedman; Ada Hamosh; Laird Jackson; Erin B Kaminsky; Klaas Kok; Ian D Krantz; Robert M Kuhn; Charles Lee; James M Ostell; Carla Rosenberg; Stephen W Scherer; Nancy B Spinner; Dimitri J Stavropoulos; James H Tepperberg; Erik C Thorland; Joris R Vermeesch; Darrel J Waggoner; Michael S Watson; Christa Lese Martin; David H Ledbetter
Journal:  Am J Hum Genet       Date:  2010-05-14       Impact factor: 11.025

5.  Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.

Authors:  Tobias B Haack; Dirk Klee; Tim M Strom; Ertan Mayatepek; Thomas Meitinger; Holger Prokisch; Felix Distelmaier
Journal:  Brain       Date:  2014-05-30       Impact factor: 13.501

6.  Incidental medical information in whole-exome sequencing.

Authors:  Benjamin D Solomon; Donald W Hadley; Daniel E Pineda-Alvarez; Aparna Kamat; Jamie K Teer; Praveen F Cherukuri; Nancy F Hansen; Pedro Cruz; Alice C Young; Benjamin E Berkman; Settara C Chandrasekharappa; James C Mullikin
Journal:  Pediatrics       Date:  2012-05-14       Impact factor: 7.124

7.  Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Authors:  Sarah S Kalia; Kathy Adelman; Sherri J Bale; Wendy K Chung; Christine Eng; James P Evans; Gail E Herman; Sophia B Hufnagel; Teri E Klein; Bruce R Korf; Kent D McKelvey; Kelly E Ormond; C Sue Richards; Christopher N Vlangos; Michael Watson; Christa L Martin; David T Miller
Journal:  Genet Med       Date:  2016-11-17       Impact factor: 8.822

8.  Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress.

Authors:  Valentina Imperatore; Maria Antonietta Mencarelli; Chiara Fallerini; Laura Bianciardi; Francesca Ariani; Simone Furini; Alessandra Renieri; Francesca Mari; Elisa Frullanti
Journal:  Int J Mol Sci       Date:  2016-02-27       Impact factor: 5.923

9.  Genomic newborn screening: public health policy considerations and recommendations.

Authors:  Jan M Friedman; Martina C Cornel; Aaron J Goldenberg; Karla J Lister; Karine Sénécal; Danya F Vears
Journal:  BMC Med Genomics       Date:  2017-02-21       Impact factor: 3.063

10.  Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.

Authors:  Glen R Monroe; Gerardus W Frederix; Sanne M C Savelberg; Tamar I de Vries; Karen J Duran; Jasper J van der Smagt; Paulien A Terhal; Peter M van Hasselt; Hester Y Kroes; Nanda M Verhoeven-Duif; Isaäc J Nijman; Ellen C Carbo; Koen L van Gassen; Nine V Knoers; Anke M Hövels; Mieke M van Haelst; Gepke Visser; Gijs van Haaften
Journal:  Genet Med       Date:  2016-02-04       Impact factor: 8.822
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  2 in total

1.  Hydrochlorothiazide Test as a Tool in the Diagnosis of Gitelman Syndrome in Chinese Patients.

Authors:  Xiaoyan Peng; Bingbin Zhao; Lei Zhang; Lanping Jiang; Tao Yuan; Ying Wang; Haiyun Wang; Jie Ma; Naishi Li; Ke Zheng; Min Nie; Xuemei Li; Xiaoping Xing; Limeng Chen
Journal:  Front Endocrinol (Lausanne)       Date:  2018-09-24       Impact factor: 5.555

2.  An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.

Authors:  Mallory J Owen; Sebastien Lefebvre; Christian Hansen; Chris M Kunard; David P Dimmock; Laurie D Smith; Gunter Scharer; Rebecca Mardach; Mary J Willis; Annette Feigenbaum; Anna-Kaisa Niemi; Yan Ding; Luca Van Der Kraan; Katarzyna Ellsworth; Lucia Guidugli; Bryan R Lajoie; Timothy K McPhail; Shyamal S Mehtalia; Kevin K Chau; Yong H Kwon; Zhanyang Zhu; Sergey Batalov; Shimul Chowdhury; Seema Rego; James Perry; Mark Speziale; Mark Nespeca; Meredith S Wright; Martin G Reese; Francisco M De La Vega; Joe Azure; Erwin Frise; Charlene Son Rigby; Sandy White; Charlotte A Hobbs; Sheldon Gilmer; Gail Knight; Albert Oriol; Jerica Lenberg; Shareef A Nahas; Kate Perofsky; Kyu Kim; Jeanne Carroll; Nicole G Coufal; Erica Sanford; Kristen Wigby; Jacqueline Weir; Vicki S Thomson; Louise Fraser; Seka S Lazare; Yoon H Shin; Haiying Grunenwald; Richard Lee; David Jones; Duke Tran; Andrew Gross; Patrick Daigle; Anne Case; Marisa Lue; James A Richardson; John Reynders; Thomas Defay; Kevin P Hall; Narayanan Veeraraghavan; Stephen F Kingsmore
Journal:  Nat Commun       Date:  2022-07-26       Impact factor: 17.694
  2 in total

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