Hereditary angioedema: a Taiwanese family with a novel gene mutation.
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.
Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
Da-Chin
DC
Wen
Shyh-Dar
SD
Shyur
Jiunn-Yi
JY
Wu
Chun-Chun
CC
Lin
Yi-Chi
YC
Chiang
Li-Hsin
LH
Huang
Mao-Tsair
MT
Lin
Hwai-Chih
HC
Yang
Pei-Hsuan
PH
Liang
D000208:Acute Disease; D000293:Adolescent; D054179:Angioedemas, Hereditary / Q000235:genetics*; D001483:Base Sequence; D003174:Complement C1 Inactivator Proteins / Q000235:genetics*; D050718:Complement C1 Inhibitor Protein; D003181:Complement C4 / Q000032:analysis; D003165:Complement System Proteins / Q000032:analysis; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D015843:Serpins / Q000097:blood / Q000235:genetics*; D013624:Taiwan
D003174:Complement C1 Inactivator Proteins; D050718:Complement C1 Inhibitor Protein; D003181:Complement C4; C469952:SERPING1 protein, human; D015843:Serpins; D003165:Complement System Proteins