%0 Case Reports
%T Novel TINF2 gene mutation in dyskeratosis congenita with extremely short telomeres: A case report.
%A Picos-Cárdenas VJ
%A Beltrán-Ontiveros SA
%A Cruz-Ramos JA
%A Contreras-Gutiérrez JA
%A Arámbula-Meraz E
%A Angulo-Rojo C
%A Guadrón-Llanos AM
%A Leal-León EA
%A Cedano-Prieto DM
%A Meza-Espinoza JP
%J World J Clin Cases
%V 10
%N 33
%D Nov 2022 26
%M 36483815
%F 1.534
%R 10.12998/wjcc.v10.i33.12440
%X <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.