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

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.(Val285-Alafs*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.

Automated summary

This case report describes a female patient with typical symptoms of dyskeratosis congenita and identifies a novel mutation in the TINF2 gene as the cause of the disease through genetic and molecular biology studies.