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

World Journal of Clinical Cases 2022年第33期10卷 12440-12446页

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 Laboratorio de Genética Facultad de MedicinaUniversidad Autónoma de SinaloaCuliacán 80018SinaloaMexico Centro de Investigación y Docencia en Ciencias de la Salud Hospital Civil de CuliacánUniversidad Autónoma de SinaloaCuliacán 80030SinaloaMexico Departamento de Clínicas Médicas Centro Universitario de Ciencias de la SaludUniversidad de GuadalajaraGuadalajara 44340JaliscoMexico Facultad de Medicina Universidad Autónoma de SinaloaCuliacán 80018SinaloaMexico Laboratorio de Genética y Biología Molecular Facultad de Ciencias Químico-BiológicasUniversidad Autónoma de SinaloaCuliacán 80010SinaloaMexico Laboratorio de Neurociencias Facultad de MedicinaUniversidad Autónoma de SinaloaCuliacán 80018SinaloaMexico Laboratorio de Diabetes y Comorbilidades Facultad de MedicinaUniversidad Autónoma de SinaloaCuliacán 80018SinaloaMexico Facultad de Medicina Universidad Autónoma de TamaulipasMatamoros 87349TamaulipasMexico

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.

关键词： dyskeratosis congenita TINF2 Germline mutation Novel mutation Short telomeres Case report

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A patient with dyskeratosis congenita and portal hypertension

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Portal Hypertension & Cirrhosis 2023年第2期2卷 101-104页

作者： Min Wei Yuanyuan Liu Jinhou Li Hongxia Wang Yanjing Gao Department of Gastroenterology Qilu Hospital of Shandong UniversityJinanShandongChina Department of Gastroenterology Taian City Central HospitalTai'anShandongChina Department of Radiology Binzhou Medical University HospitalBinzhouShandongChina

Portal hypertension(PH)refers to a collection of syndromes characterized by an increase in pressure within the portal venous system and/or elevated portal venous blood flow,most commonly caused by *** condition is frequently associated with viral hepatitis and chronic alcohol abuse,and its complications,such as ascites,hepatic encephalopathy,and esophageal varices,have a considerable impact on *** congenita(DC)is a rare genetic disorder that affects multiple systems,most notably manifesting as dystrophy of the fingernails and toenails,skin pigmentation,and mucosal *** cirrhotic PH is an uncommon complication of DC,we present a case of a young patient who presented with PH and had no history of hepatitis or heavy alcohol *** patient underwent splenectomy and devascularization to treat hypersplenism and esophagogastric varices caused by PH but developed portal vein thrombosis following the *** the patient's cutaneous manifestations and cirrhosis that could not be attributed to common causes,we continued to search for the underlying cause of PH until the diagnosis of DC was finally *** patient was subsequently treated with carvedilol to prevent variceal rebleeding and showed no significant complications or bleeding during follow-up.

关键词： Liver cirrhosis Portal hypertension dyskeratosis congenita

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Aplastic anemia associated with dyskeratosis congenita treated with antilymphocyte globulin and cyclosporine: a case report

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Chinese Medical Journal 2005年第9期118卷 790-792页

作者： Hsiu-MeiHuang Wen-LiangYu Yu-LunHuang Wei-ShiouHwang Chao-JungTsao Hsiao-ShengLiu Guan-ChengHuang DepartmentofInternalMedicine ChimeiMedicalCenterYungKangCityTainanTaiwan710China DepartmentofOphthalmology ChangGungMemorialHospitalKaohsiungTaiwan833China CollegeofMedicine NationalChengKungUniversityTainanTaiwan710China

dyskeratosis congenita (DC) is a severe inherited disease characterized by a triad of clinical manifestations including abnormal skin pigmentation, nail dystrophy, and mucosal leukoplakia. 1 Bone marrow failure is the principal cause of early mortality, together with an increased predisposition to malignancy and fatal pulmonary complications. According to the dyskeratosis congenita registry, a peripheral blood cytopenia of one or more lineages is reported in 93% of patients, with 51% developing pancytopenia before the age of 10 years. 2 In patients with DC, bone marrow failure or bone marrow failure treatment-associated complications account for 67% of total mortality. 3 Therefore, management of bone marrow failure syndrome is crucial in patients with DC.

关键词： dyskeratosis congenita aplastic anemia antilymphocyte globulin immunosuppression therapy

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