Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema
Hereditary angioedema due to C1-inhibitor deficiency (HAE-C1INH) is a rare autosomal-
dominant disease caused by mutations in SERPING1 gene. The main clinical feature of
C1INH deficiency is the spontaneous edema of the subcutaneous and submucosal layers.
More than 280 different mutations scattering the entire SERPING1 gene have been reported.
We identified and characterized a new mutation in SERPING1 gene in a Spanish family with
hereditary angioedema. The mutation (c. 685+ 2 T> A) disrupts the donor splice site of intron …
dominant disease caused by mutations in SERPING1 gene. The main clinical feature of
C1INH deficiency is the spontaneous edema of the subcutaneous and submucosal layers.
More than 280 different mutations scattering the entire SERPING1 gene have been reported.
We identified and characterized a new mutation in SERPING1 gene in a Spanish family with
hereditary angioedema. The mutation (c. 685+ 2 T> A) disrupts the donor splice site of intron …