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In 45 subjects affected by HAE diagnosed through clinical features and C1 inhibitor deficiency from the south of Italy (38 with type\u00a0I and 7 with type\u00a0II HAE), the whole <jats:italic>C1NH<\/jats:italic> coding region was screened for mutations by direct DNA sequencing. A severity score based on clinical manifestation, age at disease onset, and need for long\u2010term prophylaxis was used to investigate possible genotype\u2010phenotype correlations. A series of 22 different mutations was identified: nine missense (40.9%), five nonsense (22.7%), six frameshift (27.3), one small deletion (4.5%), and one splicing defect (4.5%). Nine <jats:italic>C1NH<\/jats:italic> mutations have not been previously described. No correlation was found between C1 inhibitor function level and severity score or age at first attack. Moreover, there was no correlation between different types of mutations and clinical phenotype. The number of different mutations identified highlights the heterogeneity of C1 inhibitor deficiency and supports the hypothesis that HAE clinical phenotype is not strictly related to the type of mutation but rather depends on unknown factors.<\/jats:p>","DOI":"10.1111\/ahg.12052","type":"journal-article","created":{"date-parts":[[2014,1,24]],"date-time":"2014-01-24T08:28:52Z","timestamp":1390552132000},"page":"73-82","source":"Crossref","is-referenced-by-count":37,"title":["Mutational Spectrum of the C1 Inhibitor Gene in a Cohort of Italian Patients with Hereditary Angioedema: Description of Nine Novel Mutations"],"prefix":"10.1111","volume":"78","author":[{"given":"Valeria","family":"Bafunno","sequence":"first","affiliation":[{"name":"Medical Genetics Department of Clinical and Experimental Medicine University of Foggia  Foggia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Bova","sequence":"additional","affiliation":[{"name":"Division of Clinical Immunology and Allergy University of Naples Federico II  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Loffredo","sequence":"additional","affiliation":[{"name":"Division of Clinical Immunology and Allergy University of Naples Federico II  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Divella","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Center for the Diagnosis and Treatment of Hereditary Angioedema Department of Emergency and Organ Transplantation University \u201cAldo Moro\u201d Bari Azienda Ospedaliero\u2010Universitaria \u201cConsorziale Policlinico\u201d  Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelica","family":"Petraroli","sequence":"additional","affiliation":[{"name":"Division of Clinical Immunology and Allergy University of Naples Federico II  Naples 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