Homozygosity for a factor XII mutation in one female and one male patient with hereditary angio-oedema

Author(s)

Grumach, A. S. ^{[1, 2]} ; Stieber, C. ^{[3, 4]} ; Veronez, C. L. ^[5] ; Cagini, N. ^[5] ; Constantino-Silva, R. N. ^{[1, 2]} ; Cordeiro, E. ^{[1, 2]} ; Noethen, M. M. ^{[3, 4]} ; Pesquero, J. B. ^[5] ; Cichon, S. ^{[3, 4, 6]}

Affiliation

^[1] Fac Med ABC, Outpatient Grp Recurrent Infect, Santo Andre - Brazil

^[2] Fac Med ABC, Clin Immunol Lab, Santo Andre - Brazil

^[3] Univ Bonn, Inst Human Genet, Life & Brain Ctr, Dept Genom, Bonn - Germany

^[4] Univ Hosp, Ctr Rare Dis Bonn, Bonn - Germany

^[5] Univ Fed Sao Paulo, Dept Biophys, Sao Paulo - Brazil

^[6] Univ Basel Hosp, Dept Biomed, Div Med Genet, CH-4031 Basel - Switzerland

• Document type: Journal article
• Source: ALLERGY; v. 71, n. 1, p. 119-123, JAN 2016.
• Web of Science Citations: 4

Abstract

Hereditary angio-oedema (HAE) with normal C1 inhibitor is associated with heterozygous mutations in the factor XII gene (FXII-HAE). We report two Brazilian FXII-HAE families segregating the mutation c.983 C>A (p.Thr328Lys). In each family, one patient with a homozygous mutation was found. The homozygous female patient in family 1 displayed a severe phenotype. However, this falls within the clinical phenotype spectrum reported for heterozygous female mutation carriers. The homozygous male patient in family 2 also showed a severe phenotype. This finding is intriguing, as to our knowledge, it is the first such report for a male FXII-HAE mutation carrier. In the rare instances in which male mutation carriers are affected, a mild phenotype is typical. The present findings therefore suggest that homozygous FXII-HAE mutation status leads to a severe phenotype in females and males, and to an increased risk of manifest symptoms in the latter. (AU)

• FAPESP's process: 13/02661-4 - Genetics of hereditary angioedema
• Grantee: João Bosco Pesquero
• Support Opportunities: Regular Research Grants