BIOMAT Database Logo BIOMAT Database Logo

Hereditary angioedema: a Taiwanese family with a novel gene mutation. 2007

Da-Chin Wen, and Shyh-Dar Shyur, and Jiunn-Yi Wu, and Chun-Chun Lin, and Yi-Chi Chiang, and Li-Hsin Huang, and Mao-Tsair Lin, and Hwai-Chih Yang, and Pei-Hsuan Liang
Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.

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.

UI MeSH Term Description Entries
D008297 Male Males
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D003165 Complement System Proteins Serum glycoproteins participating in the host defense mechanism of COMPLEMENT ACTIVATION that creates the COMPLEMENT MEMBRANE ATTACK COMPLEX. Included are glycoproteins in the various pathways of complement activation (CLASSICAL COMPLEMENT PATHWAY; ALTERNATIVE COMPLEMENT PATHWAY; and LECTIN COMPLEMENT PATHWAY). Complement Proteins,Complement,Complement Protein,Hemolytic Complement,Complement, Hemolytic,Protein, Complement,Proteins, Complement,Proteins, Complement System
D003174 Complement C1 Inactivator Proteins Serum proteins that inhibit, antagonize, or inactivate COMPLEMENT C1 or its subunits. Complement 1 Esterase Inhibitors,Complement C1 Inactivating Proteins,Complement C1 Inhibiting Proteins,Complement C1 Inhibitor Proteins,Complement C1r Protease Inhibitor Proteins,Complement C1s Esterase Inhibitor Proteins,Complement Component 1 Inactivator Proteins
D003181 Complement C4 A glycoprotein that is important in the activation of CLASSICAL COMPLEMENT PATHWAY. C4 is cleaved by the activated COMPLEMENT C1S into COMPLEMENT C4A and COMPLEMENT C4B. C4 Complement,C4 Complement Component,Complement 4,Complement C4, Precursor,Complement Component 4,Pro-C4,Pro-complement 4,C4, Complement,Complement Component, C4,Complement, C4,Component 4, Complement,Component, C4 Complement,Pro C4,Pro complement 4
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000208 Acute Disease Disease having a short and relatively severe course. Acute Diseases,Disease, Acute,Diseases, Acute

Related Publications

Da-Chin Wen, and Shyh-Dar Shyur, and Jiunn-Yi Wu, and Chun-Chun Lin, and Yi-Chi Chiang, and Li-Hsin Huang, and Mao-Tsair Lin, and Hwai-Chih Yang, and Pei-Hsuan Liang
[Identification of a novel mutation of C1 inhibitor gene in a Chinese family with hereditary angioedema].
December 2003, Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae,
Da-Chin Wen, and Shyh-Dar Shyur, and Jiunn-Yi Wu, and Chun-Chun Lin, and Yi-Chi Chiang, and Li-Hsin Huang, and Mao-Tsair Lin, and Hwai-Chih Yang, and Pei-Hsuan Liang
A novel nonsense mutation of MSH2 gene in a Taiwanese family with hereditary nonpolyposis colorectal cancer.
February 2011, The Kaohsiung journal of medical sciences,
Da-Chin Wen, and Shyh-Dar Shyur, and Jiunn-Yi Wu, and Chun-Chun Lin, and Yi-Chi Chiang, and Li-Hsin Huang, and Mao-Tsair Lin, and Hwai-Chih Yang, and Pei-Hsuan Liang
Hereditary angioedema with a mutation in the plasminogen gene.
February 2018, Allergy,
Da-Chin Wen, and Shyh-Dar Shyur, and Jiunn-Yi Wu, and Chun-Chun Lin, and Yi-Chi Chiang, and Li-Hsin Huang, and Mao-Tsair Lin, and Hwai-Chih Yang, and Pei-Hsuan Liang
A novel XK gene mutation in a Taiwanese family with McLeod syndrome.
May 2014, Journal of the neurological sciences,
Da-Chin Wen, and Shyh-Dar Shyur, and Jiunn-Yi Wu, and Chun-Chun Lin, and Yi-Chi Chiang, and Li-Hsin Huang, and Mao-Tsair Lin, and Hwai-Chih Yang, and Pei-Hsuan Liang
Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema.
February 2014, Clinical immunology (Orlando, Fla.),
Da-Chin Wen, and Shyh-Dar Shyur, and Jiunn-Yi Wu, and Chun-Chun Lin, and Yi-Chi Chiang, and Li-Hsin Huang, and Mao-Tsair Lin, and Hwai-Chih Yang, and Pei-Hsuan Liang
Novel hereditary angioedema linked with a heparan sulfate 3-O-sulfotransferase 6 gene mutation.
October 2021, The Journal of allergy and clinical immunology,
Da-Chin Wen, and Shyh-Dar Shyur, and Jiunn-Yi Wu, and Chun-Chun Lin, and Yi-Chi Chiang, and Li-Hsin Huang, and Mao-Tsair Lin, and Hwai-Chih Yang, and Pei-Hsuan Liang
A novel C1 inhibitor gene mutation in a family with hereditary angioedema: Use of genetic analysis to facilitate early diagnosis.
January 2020, Allergology international : official journal of the Japanese Society of Allergology,
Da-Chin Wen, and Shyh-Dar Shyur, and Jiunn-Yi Wu, and Chun-Chun Lin, and Yi-Chi Chiang, and Li-Hsin Huang, and Mao-Tsair Lin, and Hwai-Chih Yang, and Pei-Hsuan Liang
Factor XII gene missense mutation Thr328Lys in an Arab family with hereditary angioedema type III.
July 2011, Allergy,
Da-Chin Wen, and Shyh-Dar Shyur, and Jiunn-Yi Wu, and Chun-Chun Lin, and Yi-Chi Chiang, and Li-Hsin Huang, and Mao-Tsair Lin, and Hwai-Chih Yang, and Pei-Hsuan Liang
[Another family with hereditary angioedema].
May 1987, Bratislavske lekarske listy,
Da-Chin Wen, and Shyh-Dar Shyur, and Jiunn-Yi Wu, and Chun-Chun Lin, and Yi-Chi Chiang, and Li-Hsin Huang, and Mao-Tsair Lin, and Hwai-Chih Yang, and Pei-Hsuan Liang
Identification of a novel and recurrent mutation in the SERPING1 gene in patients with hereditary angioedema.
May 2013, Clinical immunology (Orlando, Fla.),
Copied contents to your clipboard!