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Allergy. 2016 Jan;71(1):119-23. doi: 10.1111/all.12769. Epub 2015 Oct 16.

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

Author information

1
Outpatient Group of Recurrent Infections and Laboratory of Clinical Immunology, Faculty of Medicine ABC, Santo André, Brazil.
2
Department of Genomics, Life & Brain Center, Institute of Human Genetics, University of Bonn, Bonn, Germany.
3
Center for Rare Diseases Bonn, University Hospital of Bonn, Bonn, Germany.
4
Department of Biophysics, Universidade Federal de Sao Paulo, São Paulo, Brazil.
5
Division of Medical Genetics, Department of Biomedicine, University Hospital Basel, Basel, Switzerland.

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.

KEYWORDS:

factor XII; hereditary angio-oedema; homozygosity

PMID:
26392288
DOI:
10.1111/all.12769
[Indexed for MEDLINE]

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