AUTHOR=Hernández-Hernández Laura , Sanz Catalina , Marcos-Vadillo Elena , García-Sánchez Asunción , Moreno Esther , Lorente Félix , González-de-Olano David , Dávila Ignacio , Isidoro-García María 

TITLE=Increased TPSAB1 Copy Number in a Family With Elevated Basal Serum Levels of Tryptase

JOURNAL=Frontiers in Medicine

VOLUME=Volume 8 - 2021

YEAR=2021

URL=https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2021.577081

DOI=10.3389/fmed.2021.577081

ISSN=2296-858X

ABSTRACT=Background: Some recent familiar studies have described a pattern of autosomal dominant inheritance for increased basal serum tryptase (BST), but no correlation with mRNA expression and gene dose have been reported. 
Objective: We analyzed the TPSAB1 mRNA expression and gene dose in a four-member family with high BST and in two control subjects. 
Methods: Blood samples were collected from the family and control subjects. A complete morphologic, immunophenotypical and molecular bone marrow mast cell studies were performed. mRNA gene expression and gene dose were performed in a LightCycler 480 instrument. 
Results: The elevated total BST in family members correlated with a significant increase in tryptase gene expression and gene dose. 
Conclusions and Clinical Relevance: We present a family with elevated BST that correlated with a high expression of tryptase genes and gene dose. The main relevance is that not always serum elevated basal levels of tryptase means that the patient has a mast cell disorders. Clinicians should be aware that there are cases of familial hypertriptasemia.