In:
International Archives of Allergy and Immunology, S. Karger AG, Vol. 151, No. 2 ( 2010), p. 149-154
Abstract:
〈 i 〉 Background: 〈 /i 〉 Autosomal dominant hereditary angioedema (HAE) results in episodes of subcutaneous edema in any body part and/or submucosal edema of the upper respiratory or gastrointestinal tracts. This disorder is caused by mutations in the 〈 i 〉 C1NH 〈 /i 〉 gene, many of which have been described primarily in European patients. However, the genetic cause of HAE in Middle Eastern Arab patients has not yet been determined. 〈 i 〉 Methods: 〈 /i 〉 Four unrelated Arab families, in which 15 patients were diagnosed with HAE, were studied. DNA from 13 patients was analyzed for mutations in the 〈 i 〉 C1NH 〈 /i 〉 gene by DNA sequencing. 〈 i 〉 Results: 〈 /i 〉 Three novel and 2 recurrent mutations were identified in the 〈 i 〉 C1NH 〈 /i 〉 gene of HAE patients. In family 1, the patient was heterozygous for a novel c.856C 〉 T and a recurrent c.1361T 〉 A missense mutation encoding for p.Arg264Cys and p.Val432Glu, respectively. In patients from family 2, a novel c.509C 〉 T missense mutation encoding for a p.Ser148Phe was identified. In patients from family 3, a novel c.1142delC nonsense mutation encoding for a p.Ala359AlafsX15 was discovered. In family 4, a recurrent c.1397G 〉 A missense mutation encoding for a p.Arg444His was present. 〈 i 〉 Conclusion: 〈 /i 〉 This is the first ever report of 〈 i 〉 C1NH 〈 /i 〉 gene mutations in Middle Eastern Arab patients. Our study suggests that, despite the numerous existing mutations in the 〈 i 〉 C1NH 〈 /i 〉 gene, there are novel and recurrent mutations in HAE patients of non-European origin. We conclude that the spectrum of 〈 i 〉 C1NH 〈 /i 〉 gene mutations in HAE patients is wider due to the likely presence of novel and recurrent mutations in patients of other ethnicities.
Type of Medium:
Online Resource
ISSN:
1018-2438
,
1423-0097
Language:
English
Publisher:
S. Karger AG
Publication Date:
2010
detail.hit.zdb_id:
1482722-0
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