Identification of an elusive SERPING1 deletion in a family with hereditary angioedema type I utilizing soft clipping

Without additional techniques following NGS and MLPA, such as a soft clipping analysis method, many difficult-to-detect large insertions and deletions may go undetected. We propose that a systematic approach to undetected HAE-causing mutation analysis, incorporating soft clipping as part of an overall strategy, would be more effective in identifying a small percentage of causal variants in approximately 5% of C1-esterase inhibitor HAE cases where no mutation is found by standard laboratory procedures, especially when there are high clinical suspicions of a familiar disorder.