Novel TINF2 gene mutation in dyskeratosis congenita with extremely short telomeres: A case report

• Published in: World journal of clinical cases Vol. 10; no. 33; pp. 12440 - 12446
• Main Authors: Picos-Cárdenas, Verónica Judith, Beltrán-Ontiveros, Saúl Armando, Cruz-Ramos, José Alfonso, Contreras-Gutiérrez, José Alfredo, Arámbula-Meraz, Eliakym, Angulo-Rojo, Carla, Guadrón-Llanos, Alma Marlene, Leal-León, Emir Adolfo, Cedano-Prieto, Dora María, Meza-Espinoza, Juan Pablo
• Format: Report
• Language: English
• Published: 26.11.2022
• ISSN: 2307-8960; 2307-8960
• DOI: 10.12998/wjcc.v10.i33.12440

BACKGROUNDDyskeratosis 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 SUMMARYHere, 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. CONCLUSIONThe disease in this patient was caused by a germline novel mutation of TINF2 in one of her parents.