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11/23/2022 9:44:45 AM | Browse: 217 | Download: 617
Publication Name World Journal of Clinical Cases
Manuscript ID 79958
Country/Territory Mexico
Received
2022-09-13 20:49
Peer-Review Started
2022-09-13 20:51
To Make the First Decision
Return for Revision
2022-09-26 10:00
Revised
2022-10-13 00:52
Second Decision
2022-10-20 03:18
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2022-10-20 09:12
Articles in Press
2022-10-20 09:12
Publication Fee Transferred
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
Author(s) ORCID Number
Verónica Judith Picos-Cárdenas http://orcid.org/0000-0002-4320-9619
Saúl Armando Beltrán-Ontiveros http://orcid.org/0000-0002-8411-0957
José Alfonso Cruz-Ramos http://orcid.org/0000-0002-5791-612X
José Alfredo Contreras-Gutiérrez http://orcid.org/0000-0003-3774-1278
Eliakym Arámbula-Meraz http://orcid.org/0000-0003-1026-7430
Carla Angulo-Rojo http://orcid.org/0000-0002-5097-2444
Alma Marlene Guadrón-Llanos http://orcid.org/0000-0003-4782-6398
Emir Adolfo Leal-León http://orcid.org/0000-0001-9927-5917
Dora María Cedano-Prieto http://orcid.org/0000-0002-4204-2175
Juan Pablo Meza-Espinoza http://orcid.org/0000-0003-2621-7649
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
Full Article (PDF) WJCC-10-12440.pdf
Full Article (Word) WJCC-10-12440.docx
Manuscript File 79958_Auto_Edited-LJH-JLW.docx
Answering Reviewers 79958-Answering reviewers.pdf
Audio Core Tip 79958-Audio core tip.mp3
Conflict-of-Interest Disclosure Form 79958-Conflict-of-interest statement.pdf
Copyright License Agreement 79958-Copyright license agreement.pdf
Signed Consent for Treatment Form(s) or Document(s) 79958-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 79958-Language certificate.pdf
Peer-review Report 79958-Peer-review(s).pdf
Scientific Misconduct Check 79958-Bing-Liu JH-2.jpg
Scientific Misconduct Check 79958-CrossCheck.jpg
Scientific Editor Work List 79958-Scientific editor work list.pdf