title: Congenital macrothrombocytopenia associated with a combination of functional polymorphisms in the TUBB1 gene.
abstract: Congenital thrombocytopenia in childhood and adolescence requires an extensive diagnostic workup to find the underlying reason. We report on a 13-year-old female patient who was incidentally found to have moderate thrombocytopenia which was also diagnosed in her father and brother. Within the microscopic evaluation of a peripheral blood smear macrothrombocytes were found. Immunofluorescence microscopy of the patient's platelets detected the lack of β1-tubulin. Analysis of the TUBB1 gene revealed three known missense variants in heterozygous state which in combination might explain the β1-tubulin defect.
authors.affiliation: Julia Stächele, Universitätsklinikum Carl Gustav Carus - Klinik und Poliklinik für Kinder- und Jugendmedizin, Fetscherstr. 74, 01307 Dresden, Germany, Tel. 0351/45818857, Fax 0351/4585788, julia.staechele@uniklinikum-dresden.de.
authors.forename: J
authors.initials: J
authors.lastname: Stächele
authors.forename: T
authors.initials: T
authors.lastname: Bakchoul
authors.forename: J
authors.initials: J
authors.lastname: Najm
authors.forename: U
authors.initials: U
authors.lastname: Felbor
authors.forename: R
authors.initials: R
authors.lastname: Knöfler
mesh_terms: D000293:Adolescent; D001792:Blood Platelets / Q000473:pathology*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D013921:Thrombocytopenia / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics*; D014404:Tubulin / Q000235:genetics*
chemical_list: C578986:TUBB1 protein, human; D014404:Tubulin
keywords: Congenital thrombocytopenia; macrothrombocytes; β1-tubulin defect