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DOI: 10.1055/s-0037-1619827
Congenital macrothrombocytopenia associated with a combination of functional polymorphisms in the TUBB1 gene
Angeborene Makrothrombozytopenie bei einer Kombination funktioneller Polymorphismen im TUBB1 -GenPublication History
received:
06 March 2015
accepted in revised form:
12 October 2015
Publication Date:
28 December 2017 (online)
![](https://www.thieme-connect.de/media/10.1055-s-00034925/2015S01/lookinside/thumbnails/10-1055-s-0037-1619827_de-1.jpg)
Summary
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 D1-tubulin. Analysis of the TUBB1 gene revealed three known missense variants in heterozygous state which in combination might explain the D1-tubulin defect.
Zusammenfassung
Eine angeborene Thrombozytopenie im Kindes-und Jugendalter erfordert eine umfangreiche diagnostische Aufarbeitung, um die zugrundeliegende Ursache zu finden. Wir berichten von einer 13 Jahre alten Patientin, bei welcher der Zufallsbefund einer moderaten Thrombozytopenie erhoben wurde, die auch bei ihrem Vater und Bruder diagnostiziert werden konnte. Bei der mikroskopischen Beurteilung eines peripheren Blutausstrichs imponierten Makrothrombozyten. Mittels Immunfluoreszenzmikroskopie der Thrombozyten konnte keinerlei D1-Tubulin detektiert werden. Die Analyse des TUBB1-Gens führte zum Nachweis von drei vorbeschriebenen heterozygoten Missense-Varianten, welche in ihrer Kombination den D1-Tubulin-Defekt erklären könnten.
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