Publication Name	World Journal of Medical Genetics
Manuscript ID	26568
Country	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 Executive 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/
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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