Case Report
Copyright ©The Author(s) 2016. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Med Genet. May 27, 2016; 6(2): 17-21
Published online May 27, 2016. doi: 10.5496/wjmg.v6.i2.17
Mutation in TNXB gene causes moderate to severe Ehlers-Danlos syndrome
Carolyn S Kaufman, Merlin G Butler
Carolyn S Kaufman, Merlin G Butler, Department of Psychiatry, Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS 66160, United States
Author contributions: Kaufman CS and Butler MG designed the report and wrote the manuscript.
Supported by The National Institute of Child Health and Human Development (NICHD), No. HD02528.
Institutional review board statement: University of Kansas Medical Center Institutional Review Board.
Informed consent statement: Verbal consent was obtained from the patient. There are no identifying images included in the manuscript.
Conflict-of-interest statement: There are no conflicts of interest.
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/
Correspondence to: 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
Telephone: +1-913-5881800 Fax: +1-913-5881305
Received: April 16, 2016
Peer-review started: April 19, 2016
First decision: May 10, 2016
Revised: May 15, 2016
Accepted: May 18, 2016
Article in press: May 20, 2016
Published online: May 27, 2016
Core Tip

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.