PS1496 ANKRD26-RELATED THROMBOCYTOPENIA: STUDY OF 3 FAMILIES
نویسندگان
چکیده
منابع مشابه
A missense mutation in ANKRD26 segregates with thrombocytopenia.
Lynn R. Goldin Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD Acknowledgments: The authors thank Shiva Ayobi (The National Board of Health and Welfare, Stockholm, Sweden), Susanne Dahllöf (Statistics Sweden, Orebro, Sweden), and Emily Steplowski (Information Management Services, Silver Spring, MD)...
متن کاملMutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.
Until recently, thrombocytopenia 2 (THC2) was considered an exceedingly rare form of autosomal dominant thrombocytopenia and only 2 families were known. However, we recently identified mutations in the 5'-untranslated region of the ANKRD26 gene in 9 THC2 families. Here we report on 12 additional pedigrees with ANKRD26 mutations, 6 of which are new. Because THC2 affected 21 of the 210 families i...
متن کاملACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization.
Inherited thrombocytopenias (ITs) are a heterogeneous group of syndromic and nonsyndromic diseases caused by mutations affecting different genes. Alterations of ACTN1, the gene encoding for α-actinin 1, have recently been identified in a few families as being responsible for a mild form of IT (ACTN1-related thrombocytopenia; ACTN1-RT). To better characterize this disease, we screened ACTN1 in 1...
متن کاملIdiopathic Pulmonary Embolism in a case of Severe Family ANKRD26 Thrombocytopenia
Venous thrombosis affecting thrombocytopenic patients is challenging. We report the case of a woman affected by deep vein thrombosis and pulmonary embolism in a thrombocytopenic context leading to the discovery of a heterozygous mutation in the gene encoding ankyrin repeat domain 26 (ANKRD26) associated with a heterozygous factor V (FV) Leiden mutation. This woman was diagnosed with lower-limb ...
متن کاملPLATELETS AND THROMBOPOIESIS Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families
Patrizia Noris,1 Silverio Perrotta,2 Marco Seri,3 Alessandro Pecci,1 Chiara Gnan,4 Giuseppe Loffredo,5 Nuria Pujol-Moix,6 Marco Zecca,1 Francesca Scognamiglio,7 Daniela De Rocco,8 Francesca Punzo,2,9 Federica Melazzini,1 Saverio Scianguetta,2 Maddalena Casale,2 Caterina Marconi,3 Tommaso Pippucci,3 Giovanni Amendola,10 Lucia D. Notarangelo,11 Catherine Klersy,1 Elisa Civaschi,1 Carlo L. Balduin...
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ژورنال
عنوان ژورنال: HemaSphere
سال: 2019
ISSN: 2572-9241
DOI: 10.1097/01.hs9.0000564244.71382.2b