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

2022; Baishideng Publishing Group; Volume: 10; Issue: 33 Linguagem: Inglês

10.12998/wjcc.v10.i33.12440

2307-8960

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 Leal-León, Dora María Cedano-Prieto, Juan Pablo Meza-Espinoza,

Connexins and lens biology

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.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.The disease in this patient was caused by a germline novel mutation of TINF2 in one of her parents.