{Reference Type}: Case Reports
{Title}: Novel TINF2 gene mutation in dyskeratosis congenita with extremely short telomeres: A case report.
{Author}: Picos-Cárdenas VJ;Beltrán-Ontiveros SA;Cruz-Ramos JA;Contreras-Gutiérrez JA;Arámbula-Meraz E;Angulo-Rojo C;Guadrón-Llanos AM;Leal-León EA;Cedano-Prieto DM;Meza-Espinoza JP;
{Journal}: World J Clin Cases
{Volume}: 10
{Issue}: 33
{Year}: Nov 2022 26
{Factor}: 1.534
{DOI}: 10.12998/wjcc.v10.i33.12440
{Abstract}: <B>BACKGROUND: </B>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.<BR><B>METHODS: </B>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.<BR><B>CONCLUSIONS: </B>The disease in this patient was caused by a germline novel mutation of TINF2 in one of her parents.