BPG is committed to discovery and dissemination of knowledge
Articles Published Processes
11/23/2022 9:44:45 AM | Browse: 655 | Download: 1945
 |
Received |
|
2022-09-13 20:49 |
|
Peer-Review Started |
|
2022-09-13 20:51 |
|
First Decision by Editorial Office Director |
|
2022-09-26 10:00 |
|
Return for Revision |
|
2022-09-26 10:00 |
|
Revised |
|
2022-10-13 00:52 |
 |
Publication Fee Transferred |
|
|
|
Second Decision by Editor |
|
2022-10-20 03:18 |
|
Second Decision by Editor-in-Chief |
|
|
|
Final Decision by Editorial Office Director |
|
2022-10-20 09:12 |
|
Articles in Press |
|
2022-10-20 09:12 |
|
Edit the Manuscript by Language Editor |
|
|
|
Typeset the Manuscript |
|
2022-11-06 01:27 |
|
Publish the Manuscript Online |
|
2022-11-23 09:44 |
| ISSN |
2307-8960 (online) |
| Open Access |
This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (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) 2022. 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 |
Dermatology |
| Manuscript Type |
Case Report |
| Article Title |
Novel TINF2 gene mutation in dyskeratosis congenita with extremely short telomeres: A case report
|
| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Verónica Judith Picos-Cárdenas, Saúl Armando Beltrán-Ontiveros, José Alfonso Cruz-Ramos, José Alfredo Contreras-Gutiérrez, Eliakym Arámbula-Meraz, Carla Angulo-Rojo, Alma Marlene Guadrón-Llanos, Emir Adolfo Leal-León, Dora María Cedano-Prieto and Juan Pablo Meza-Espinoza |
| ORCID |
|
| Funding Agency and Grant Number |
|
| Corresponding Author |
Juan Pablo Meza-Espinoza, PhD, Researcher, Facultad de Medicina, Universidad Autónoma de Tamaulipas, Sendero Nacional km 3, Matamoros 87349, Tamaulipas, Mexico. sirol1073@yahoo.com.mx |
| Key Words |
Dyskeratosis congenita; TINF2; Germline mutation; Novel mutation; Short telomeres; Case report |
| Core Tip |
Dyskeratosis congenita, characterized by a clinical triad of oral leukoplakia, nail dystrophy, and abnormal skin pigmentation, is a rare disease caused by mutations in genes governing telomere maintenance, including TINF2. We performed whole-exome sequencing in a female pediatric patient who presented with dyskeratosis congenita, and subsequently, a novel heterozygous mutation in exon 6 of the TINF2 gene was detected: NM_001099274.1:c.854delp.(Val285Alafs*32). An analysis of telomere length demonstrated short telomeres relative to the girl’s age. Patients with TINF2 mutations have more severe disease, so their detection is necessary to provide timely treatment. |
| Publish Date |
2022-11-23 09:44 |
| Citation |
Picos-Cárdenas VJ, Beltrán-Ontiveros SA, Cruz-Ramos JA, Contreras-Gutiérrez JA, Arámbula-Meraz E, Angulo-Rojo C, Guadrón-Llanos AM, Leal-León EA, Cedano-Prieto DM, Meza-Espinoza JP. Novel TINF2 gene mutation in dyskeratosis congenita with extremely short telomeres: A case report. World J Clin Cases 2022; 10(33): 12440-12446 |
| URL |
https://www.wjgnet.com/2307-8960/full/v10/i33/12440.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v10.i33.12440 |
All content on this site: Copyright © 1993-2026 Baishideng Publishing Group Inc, its licensors, and contributors. All rights are reserved, including those for text and data mining, AI training, and similar technologies. For all open access content, the relevant licensing terms apply.
