Clinical manifestations of a new alpha‐1 antitrypsin genetic variant: Q0parma. Issue 5 (14th April 2022)

• Record Type: Journal Article
• Authors: Aiello, Marina; Frizzelli, Annalisa; Marchi, Laura; Ferrarotti, Ilaria; Piloni, Davide; Pelà, Giovanna; De Simoni, Alessandro; D'Aloisio, Lorenzo; Calzetta, Luigino; Chetta, Alfredo
• Is Part Of: Respirology case reports. Volume 10:Issue 5(2022)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2022-04-14
• Subjects: alpha‐1 antitrypsin deficiency -- clinical manifestations -- genotype -- variant; Respiratory organs -- Diseases -- Periodicals; 616.2005
• DOI: 10.1002/rcr2.936
• Languages: English
• ISSNs: 2051-3380

Abstract

Abstract: Alpha‐1 antitrypsin deficiency is an autosomal, codominant disorder caused by mutations of the SERPINA1 gene. Several mutations of SERPINA1 have been described associated with the development of pulmonary emphysema and/or chronic liver disease and cirrhosis. Here, we report a very rare PI*Q0parma variant identified for the first time in an Italian family originally from the city of Parma in Northern Italy Abstract : Here, we report a very rare PI*Q0parma variant identified for the first time in an Italian family originally from the city of Parma in Northern Italy.