Perla Bandini: Genetic and Functional Insights into Inherited Platelet Dysfunction
Perla Bandini, Predoctoral Researcher at Blood and Tissue Bank in Barcelona, shared a post on LinkedIn about a recent article she and her colleagues co-authored, adding:
“We are excited to share that the Laboratory of Congenital Coagulopathies has published a new research letter in the British Journal of Haematology:
‘Co-inheritance of ITGA2B and TUBB1 variants in a family reveals distinct genetic contributions to platelet dysfunction.’
In this study, we report a proband presenting macrothrombocytopenia and bleeding, in whom two candidate variants in TUBB1 and ITGA2B were identified by Whole-exome sequencing.
Through extensive family segregation analysis and RNA sequencing, we were able to unravel the contribution of each variant to the phenotype observed in the proband and her family.
Our findings highlight:
- The first reported case of oligogenic inheritance involving TUBB1 and ITGA2B.
- The first described family with Bleeding Disorder Platelet Type 16, caused by an autosomal dominant ITGA2B variant, presenting with variable bleeding severity but notably without macrothrombocytopenia.
This work underscores the importance of combining genetic and functional approaches to better understand complex cases of inherited platelet disorders.
Congratulations to all co-authors and collaborators involved in this work!”
Title: Co-inheritance of ITGA2B and TUBB1 variants in a family reveals distinct genetic contributions to platelet dysfunction
Authors: Perla Bandini, Nina Borràs, Laura Martin-Fernandez, Nuria Fernández-Mosteirín, Maria Reyes Aguinaco, Olga Benítez, Natàlia Comes, Lorena Ramírez, Noemí González, Carina Lera, Carme Altisent, Francisco Vidal, Irene Corrales
Read the Full Article on British Journal of Haematology
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