Investigation of a synonymous mutation in Btk in a patient with agammaglobulinemia: A case report.
Immun Inflamm Dis
; 11(10): e1049, 2023 10.
Article
em En
| MEDLINE
| ID: mdl-37904676
ABSTRACT
BACKGROUND:
X-linked agammaglobulinemia (XLA) is the most common form of agammaglobulinemia and is caused by mutations in Btk, which encodes Bruton tyrosine kinase (BTK). CASE DESCRIPTION We describe a 36-year-old male who presented as an infant with hypogammaglobulinemia and sinopulmonary infections and was initially diagnosed with common variable immunodeficiency. Genetic testing showed he was hemizygous for Btk c.240G > A. This synonymous variant affecting the last nucleotide of exon 3 leads to aberrant splicing of most but not all mRNA transcripts.CONCLUSION:
We demonstrated reduced BTK protein expression confirming the pathogenicity of the variant and related our findings to genotype-phenotype relationship studies ina XLA caused by synonymous mutations.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Agamaglobulinemia
Limite:
Adult
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Immun Inflamm Dis
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Canadá