Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Nov 26, 2022; 10(33): 12440-12446
Published online Nov 26, 2022. doi: 10.12998/wjcc.v10.i33.12440
Novel TINF2 gene mutation in dyskeratosis congenita with extremely short telomeres: A case report
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, Juan Pablo Meza-Espinoza
Verónica Judith Picos-Cárdenas, Laboratorio de Genética, Facultad de Medicina, Universidad Autónoma de Sinaloa, Culiacán 80018, Sinaloa, Mexico
Saúl Armando Beltrán-Ontiveros, Centro de Investigación y Docencia en Ciencias de la Salud, Hospital Civil de Culiacán, Universidad Autónoma de Sinaloa, Culiacán 80030, Sinaloa, Mexico
José Alfonso Cruz-Ramos, Departamento de Clínicas Médicas, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Jalisco, Mexico
José Alfredo Contreras-Gutiérrez, Facultad de Medicina, Universidad Autónoma de Sinaloa, Culiacán 80018, Sinaloa, Mexico
Eliakym Arámbula-Meraz, Emir Adolfo Leal-León, Dora María Cedano-Prieto, Laboratorio de Genética y Biología Molecular, Facultad de Ciencias Químico-Biológicas, Universidad Autónoma de Sinaloa, Culiacán 80010, Sinaloa, Mexico
Carla Angulo-Rojo, Laboratorio de Neurociencias, Facultad de Medicina, Universidad Autónoma de Sinaloa, Culiacán 80018, Sinaloa, Mexico
Alma Marlene Guadrón-Llanos, Laboratorio de Diabetes y Comorbilidades, Facultad de Medicina, Universidad Autónoma de Sinaloa, Culiacán 80018, Sinaloa, Mexico
Juan Pablo Meza-Espinoza, Facultad de Medicina, Universidad Autónoma de Tamaulipas, Matamoros 87349, Tamaulipas, Mexico
Author contributions: Picos-Cárdenas VJ conceptualization, data collection, and manuscript preparation; Beltrán-Ontiveros SA, Contreras-Gutiérrez JA, Arámbula-Meraz E, and Angulo-Rojo C performed clinical examination and data analysis; Cruz-Ramos JA telomere study and critical review; Guadrón-Llanos AM, Leal-León EA, Cedano-Prieto DM collection of samples and interpretation of molecular studies; Meza-Espinoza JP supervision, drafting, reviewing, and editing. All the authors approved the final version of the manuscript.
Informed consent statement: Written consent was obtained from the patient’s parents for the publication of this case and the accompanying images.
Conflict-of-interest statement: All the authors indicated no conflicts of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016). The manuscript was prepared and revised according to the CARE Checklist (2016).
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: https://creativecommons.org/Licenses/by-nc/4.0/
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
Received: September 13, 2022
Peer-review started: September 13, 2022
First decision: September 26, 2022
Revised: October 13, 2022
Accepted: October 20, 2022
Article in press: October 20, 2022
Published online: November 26, 2022
Processing time: 70 Days and 12.9 Hours
Core Tip

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.