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Articles Published Processes
11/23/2022 9:44:45 AM | Browse: 340 | Download: 949
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Received |
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2022-09-13 20:49 |
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Peer-Review Started |
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2022-09-13 20:51 |
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To Make the First Decision |
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Return for Revision |
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2022-09-26 10:00 |
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Revised |
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2022-10-13 00:52 |
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Second Decision |
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2022-10-20 03:18 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2022-10-20 09:12 |
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Articles in Press |
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2022-10-20 09:12 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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2022-11-06 01:27 |
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Publish the Manuscript Online |
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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
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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| 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
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| 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 |
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| Funding Agency and Grant Number |
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| 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 |
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