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Case Report

Novel SERPING1 Small Deletion Mutation in an Indian Family with Autosomal Dominant Hereditary Angioedema-TypeI

Anuradha Udumudi , Bhawna Dubey1 , Chaitanya Vegi2 , Anuradha Udumudi3

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Indian Journal of Genetics and Molecular Research 9(1):p 29-33, Jaunary–June 2020. | DOI: http://dx.doi.org/10.21088/ijgmr.2319.4782.9120.4

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Bhawna Dubey1, Chaitanya Vegi2, Anuradha Udumudi3 Novel SERPING1 Small Deletion Mutation in an Indian Family with Autosomal Dominant Hereditary Angioedema-TypeI Indian J Genet Mol Res. 2020;9(1):29–33
 

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Abstract

Hereditary Angioedema (HAE) is characterized by recurrent attacks of submucosal or subcutaneous edema and is caused by mutations in gene SERPING1. We identified a novel heterozygous small deletion in SERPING1 using targeted exome sequencing in an HAE patient from an Indian family. The mutation c.491_502delAGACCAACATGG,p. Glu164_ Met167del, in exon 3 of SERPING1 gene is reported in the proband and her father but was not found in proband’s unaffected sibling and control samples. The mutation was classified as ‘Likely Pathogenic’ according to ACMG guidelines for interpretation of sequence variants. To the best of our knowledge, this is the first documented report for SERPING1 mutation in HAE type1 patients from India.

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Bhawna Dubey1, Chaitanya Vegi2, Anuradha Udumudi3 Novel SERPING1 Small Deletion Mutation in an Indian Family with Autosomal Dominant Hereditary Angioedema-TypeI Indian J Genet Mol Res. 2020;9(1):29–33
 

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DOI: http://dx.doi.org/10.21088/ijgmr.2319.4782.9120.4

Keywords

Hereditary Angioedema; SERPING1; C1-INH; Exome Sequencing;Small Deletion Mutation.

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