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A novel mutation in exon 8 of C 1 inhibitor ( C 1 INH ) gene leads to abolish its physiological stop codon in a large C hinese family with hereditary angioedema type I
Author(s) -
Qu Le,
Wei Bin,
Liu Mei,
Zhang Lili,
Xiao Ting,
Chen HongDuo,
Zhou Li,
Mi QingSheng,
He Chundi
Publication year - 2012
Publication title -
experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.108
H-Index - 96
eISSN - 1600-0625
pISSN - 0906-6705
DOI - 10.1111/j.1600-0625.2012.01563.x
Subject(s) - exon , mutation , stop codon , gene , hereditary angioedema , genetics , c1 inhibitor , microbiology and biotechnology , start codon , biology , chemistry , angioedema , messenger rna , immunology
C1 inhibitor ( C 1 INH ) plays an important role in the classical pathway of the complement system. Mutations in C 1 INH gene cause quantitative or qualitative deficiencies in C 1 INH , which can lead to hereditary angioedema ( HAE ) type I or II . Here, we identified a novel frame‐shift mutation c.1391‐1445del55 (p.v464fsx556) in exon 8 in a large C hinese family with HAE type I. This 55 base pairs deletion abolishes the original stop codon and introduces a new stop codon 220 bp downstream of the original one, and leads to mutated C 1 INH protein prolonged from 500 to 556 amino acids. The levels of C 4 and C 1 INH as well as C1 INH activity in serum were significantly reduced in affected individuals. This is the first report of a novel mutation abolishing the physiological stop codon of C1 INH gene in a large C hinese family with HAE type I.