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

作　　者：Verónica Judith Picos-Cárdenas Saúl Armando Beltrán-Ontiveros JoséAlfonso Cruz-Ramos JoséAlfredo Contreras-Gutiérrez Eliakym Arámbula-Meraz Carla Angulo-Rojo Alma Marlene Guadrón-Llanos Emir Adolfo Leal-León Dora María Cedano-Prieto Juan Pablo Meza-Espinoza 

机构地区：[1]Laboratorio de Genética,Facultad de Medicina,Universidad Autónoma de Sinaloa,Culiacán 80018,Sinaloa,Mexico [2]Centro de Investigación y Docencia en Ciencias de la Salud,Hospital Civil de Culiacán,Universidad Autónoma de Sinaloa,Culiacán 80030,Sinaloa,Mexico [3]Departamento de Clínicas Médicas,Centro Universitario de Ciencias de la Salud,Universidad de Guadalajara,Guadalajara 44340,Jalisco,Mexico [4]Facultad de Medicina,Universidad Autónoma de Sinaloa,Culiacán 80018,Sinaloa,Mexico [5]Laboratorio de Genética y Biología Molecular,Facultad de Ciencias Químico-Biológicas,Universidad Autónoma de Sinaloa,Culiacán 80010,Sinaloa,Mexico [6]Laboratorio de Neurociencias,Facultad de Medicina,Universidad Autónoma de Sinaloa,Culiacán 80018,Sinaloa,Mexico [7]Laboratorio de Diabetes y Comorbilidades,Facultad de Medicina,Universidad Autónoma de Sinaloa,Culiacán 80018,Sinaloa,Mexico [8]Facultad de Medicina,Universidad Autónoma de Tamaulipas,Matamoros 87349,Tamaulipas,Mexico

出　　处：《World Journal of Clinical Cases》2022年第33期12440-12446,共7页世界临床病例杂志

摘　　要：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.

关 键 词：Dyskeratosis congenita TINF2 Germline mutation Novel mutation Short telomeres Case report 

分 类 号：R596[医药卫生—内科学]