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6/24/2016 1:46:00 PM | Browse: 915 | Download: 1055
Publication Name World Journal of Medical Genetics
Manuscript ID 26568
Country/Territory United States
Received
2016-04-16 10:47
Peer-Review Started
2016-04-19 10:10
To Make the First Decision
2016-05-17 14:00
Return for Revision
2016-05-19 15:27
Revised
2016-05-27 22:41
Second Decision
2016-05-31 16:59
Accepted by Journal Editor-in-Chief
2016-05-31 22:32
Accepted by Company Editor-in-Chief
2016-06-16 15:30
Articles in Press
2016-06-16 15:31
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
2016-06-21 17:09
Publish the Manuscript Online
2016-06-24 13:46
ISSN 2220-3184 (online)
Open Access This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Copyright © The Author(s) 2016. Published by Baishideng Publishing Group Inc. All rights reserved.
Article Reprints For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
Permissions For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Category Genetics & Heredity
Manuscript Type Case Report
Article Title Mutation in TNXB gene causes moderate to severe Ehlers-Danlos syndrome
Manuscript Source Invited Manuscript
All Author List Carolyn S Kaufman and Merlin G Butler
Funding Agency and Grant Number
Funding Agency Grant Number
The National Institute of Child Health and Human Development HD02528
Corresponding Author Merlin G Butler, MD, PhD, Departments of Psychiatry, Behavioral Sciences and Pediatrics, University of Kansas Medical Center, 3901 Rainbow Blvd, MS 4015, Kansas City, KS 66160, United States. mbutler4@kumc.edu
Key Words Ehlers-Danlos syndrome; Genetic variants; Mutations; Hypermobility; Joint pain; Muscle weakness; Raynaud’s phenomenon; Tenascin-X; TNXB; Ehlers-Danlos syndrome due to tenascin-X deficiency
Core Tip Various types of Ehlers-Danlos syndrome (EDS) have unique phenotypic features and genetic causes that are under investigation. This case report presents a gene variant (6074A > T nucleotide transition in the TNXB gene) not previously classified as disease-causing which we propose should be classified as pathogenic. This variant appears to produce joint hypermobility, skeletal pain, and musculoskeletal problems and should be classified as causing EDS due to tenascin-X deficiency.
Publish Date 2016-06-24 13:46
Citation Kaufman CS, Butler MG. Mutation in TNXB gene causes moderate to severe Ehlers-Danlos syndrome. World J Med Genet 2016; 6(2): 17-21
URL http://www.wjgnet.com/2220-3184/full/v6/i2/17.htm
DOI http://dx.doi.org/10.5496/wjmg.v6.i2.17
Full Article (PDF) WJMG-6-17.pdf
Full Article (Word) WJMG-6-17.doc
Manuscript File 26568-Review.docx
Answering Reviewers 26568-Answering reviewers.pdf
Audio Core Tip 26568-Audio core tip.mp3
Conflict-of-Interest Disclosure Form 26568-Conflict-of-interest statement.pdf
Copyright License Agreement 26568-Copyright assignment.pdf
Approved Grant Application Form(s) or Funding Agency Copy of any Approval Document(s) 26568-Grant application form(s).pdf
Institutional Review Board Approval Form or Document 26568-Institutional review board statement.pdf
Peer-review Report 26568-Peer-review(s).pdf
Journal Editor-in-Chief Review Report 26568-Journal editor-in-chief review report.pdf
Scientific Misconduct Check 26568-Scientific misconduct check.pdf
Scientific Editor Work List 26568-Scientific editor work list.pdf