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

Abstract

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.

Inherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico

“…Published information on cohorts of patients with IBMFS from LMICs, including Mexico, remains scarce. Comprehensive available data of Mexican patients with IBMFS are predominantly case reports or small case series, such as those for patients with FA ( García-de Teresa et al, 2019 ; Reyes et al, 2022 ), or case reports from a limited number of patients with DC or SCN ( López-Rodríguez et al, 2022 ; Picos-Cárdenas et al, 2022 ; Velez-Tirado et al, 2022 ).…”