Hereditary angioedema: a Taiwanese family with a novel gene mutation.
Asian Pac J Allergy Immunol
;
2007 Jun-Sep; 25(2-3): 163-7
Article
in English
| IMSEAR
| ID: sea-37202
ABSTRACT
Hereditary angioedema (HAE) is an autosomal dominant disorder caused by a deficiency of C1 esterase inhibitor (C1-INH). Affected individuals have attacks of swelling involving almost any part of the body. We studied a family with 15 living members, including a 16-year-old girl who had 3 attacks of angioedema in 2 years. Her paternal uncle had died of asphyxiation during an attack 15 years previously. We analyzed the blood of each family member for C3, C4, and C1-INH levels and sequenced the SERPING1 (formerly C1NH) gene that codes for C1-INH. Six individuals had decreased serum levels of C4 and C1-INH, and they were all found to have a single nucleotide A deletion at codon 210 of the gene, 1210fsX210, a novel mutation that accounts for the HAE in this family.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Pedigree
/
Taiwan
/
Female
/
Humans
/
Male
/
Complement System Proteins
/
Complement C4
/
Molecular Sequence Data
/
Base Sequence
/
Serpins
Country/Region as subject:
Asia
Language:
English
Journal:
Asian Pac J Allergy Immunol
Year:
2007
Type:
Article
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