Increased TPSAB1 copy number in a family with elevated basal serum levels of tryptase

[EN]Background: Some recent familial 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 TPSAB1 mRNA expression and gene dose in a four-member fam...

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Detalles Bibliográficos
Autores: Hernández Hernández, Laura, Sanz Lozano, Catalina Sofía, Marcos Vadillo, Elena, García Sánchez, María Asunción, Moreno Rodilla, Esther María, Lorente Toledano, Félix, González-de-Olano, David, Dávila González, Ignacio Jesús, Isidoro García, María
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2021
País:España
Institución:Universidad de Salamanca (USAL)
Repositorio:GREDOS. Repositorio Institucional de la Universidad de Salamanca
OAI Identifier:oai:gredos.usal.es:10366/158748
Acceso en línea:http://hdl.handle.net/10366/158748
Access Level:acceso abierto
Palabra clave:Basal serum tryptase
Hereditary α-tryptasemia
Mast cells
Tryptase
β-tryptase
Genetics
Allergy and Immunology
3207.01 Alergias
2409 Genética
alergia e inmunología
genética
Descripción
Sumario:[EN]Background: Some recent familial 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 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. Complete morphologic, immunophenotypical, and molecular bone marrow mast cell (MC) studies were performed. mRNA gene expression and gene dose were performed in a LightCycler 480 instrument. Genotype and CNV were performed by quantitative real-time digital PCR (qdPCR). Results: CNV analysis revealed a hereditary copy number gain genotype (3β2α) present in all the family members studied. The elevated total BST in the family members correlated with a significant increase in tryptase gene expression and dose. Conclusions and Clinical Relevance: We present a family with hereditary α-tryptasemia and elevated BST which correlated with a high expression of tryptase genes and an increased gene dose. The family members presented with atypical MC-mediator release symptoms or were even asymptomatic. Clinicians should be aware that elevated BST does not always mean an MC disorder.

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