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©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
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
BACKGROUND
Dyskeratosis congenita is a rare disease characterized by bone marrow failure and a clinical triad of oral leukoplakia, nail dystrophy, and abnormal skin pigmentation. The genetics of dyskeratosis congenita include mutations in genes involved in telomere maintenance, including TINF2.
CASE SUMMARY
Here, we report a female patient who presented thrombocytopenia, anemia, reticulate hyperpigmentation, dystrophy in fingernails and toenails, and leukoplakia on the tongue. A histopathological study of the skin showed dyskeratocytes; however, a bone marrow biopsy revealed normal cell morphology. The patient was diagnosed with dyskeratosis congenita, but her family history did not reveal significant antecedents. Whole-exome sequencing showed a novel heterozygous punctual mutation in exon 6 from the TINF2 gene, namely, NM_001099274.1:c.854delp.(Val285Alafs*32). An analysis of telomere length showed short telomeres relative to the patient’s age.
CONCLUSION
The disease in this patient was caused by a germline novel mutation of TINF2 in one of her parents.
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.
