Novel TINF2 gene mutation in dyskeratosis congenita with extremely short telomeres:A case report
作者机构:Laboratorio de GenéticaFacultad de MedicinaUniversidad Autónoma de SinaloaCuliacán 80018SinaloaMexico Centro de Investigación y Docencia en Ciencias de la SaludHospital Civil de CuliacánUniversidad Autónoma de SinaloaCuliacán 80030SinaloaMexico Departamento de Clínicas MédicasCentro Universitario de Ciencias de la SaludUniversidad de GuadalajaraGuadalajara 44340JaliscoMexico Facultad de MedicinaUniversidad Autónoma de SinaloaCuliacán 80018SinaloaMexico Laboratorio de Genética y Biología MolecularFacultad de Ciencias Químico-BiológicasUniversidad Autónoma de SinaloaCuliacán 80010SinaloaMexico Laboratorio de NeurocienciasFacultad de MedicinaUniversidad Autónoma de SinaloaCuliacán 80018SinaloaMexico Laboratorio de Diabetes y ComorbilidadesFacultad de MedicinaUniversidad Autónoma de SinaloaCuliacán 80018SinaloaMexico Facultad de MedicinaUniversidad Autónoma de TamaulipasMatamoros 87349TamaulipasMexico
出 版 物:《World Journal of Clinical Cases》 (世界临床病例杂志)
年 卷 期:2022年第10卷第33期
页 面:12440-12446页
核心收录:
学科分类:1002[医学-临床医学] 100201[医学-内科学(含:心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学]
基 金:Liliana Itzel Patrón Baro (PROFAPI-UAS-2022 Pro_A3_031)
主 题:Dyskeratosis congenita TINF2 Germline mutation Novel mutation Short telomeres Case report
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 *** genetics of dyskeratosis congenita include mutations in genes involved in telomere maintenance,including *** 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 *** patient was diagnosed with dyskeratosis congenita,but her family history did not reveal significant ***-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 *** The disease in this patient was caused by a germline novel mutation of TINF2 in one of her parents.